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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
JAM3	83700	broad.mit.edu	37	11	134014821	134014821	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:134014821A>T	uc001qhb.2	+	4	703	c.679A>T	c.(679-681)Acg>Tcg	p.T227S	JAM3_uc009zcz.2_Missense_Mutation_p.T131S	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	182	Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		ACCACTGCCCACGGATTCCAG	0.517000														1			24		0	0	0.000720815	0	0
LNPEP	4012	broad.mit.edu	37	5	96358022	96358022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:96358022C>T	uc003kmv.1	+	13	2909	c.2395C>T	c.(2395-2397)Ctt>Ttt	p.L799F	LNPEP_uc003kmw.1_Missense_Mutation_p.L785F	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	799					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		ATTTAAATTACTTCAAAACCA	0.398000														12			12		0	0	0.000219431	0	0
NSUN2	54888	broad.mit.edu	37	5	6632738	6632738	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:6632738G>A	uc003jdu.3	-	1	609	c.228C>T	c.(226-228)gcC>gcT	p.A76A	NSUN2_uc011cmk.2_Silent_p.A76A|NSUN2_uc003jdv.3_5'UTR|SRD5A1_uc003jdw.3_5'Flank|SRD5A1_uc011cml.2_5'Flank|SRD5A1_uc011cmm.2_5'Flank	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	76						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TTCTTAAAGTGGCCGGGAGCG	0.552000														61			95		0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10419889	10419889	+	Missense_Mutation	SNP	C	T	T	rs61730792	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:10419889C>T	uc002gmo.3	-	2	165	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	24	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R24Q(2)|p.E23D(1)|p.R24*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCTTCAATTCGCTCCCTTTC	0.507000														24			17		0	0	0.000566183	0	0
CDH8	1006	broad.mit.edu	37	16	61851400	61851400	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:61851400G>A	uc002eog.2	-	6	2215	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	CDH8_uc002eoh.3_Silent_p.I189I	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	420	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GACTGGAAGTGATATCAGGGT	0.428000														4			7		0	0	0.000157383	0	0
LTBP2	4053	broad.mit.edu	37	14	74970718	74970718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:74970718G>A	uc001xqa.3	-	30	4880	c.4493C>T	c.(4492-4494)cCg>cTg	p.P1498L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1498	EGF-like 17; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCGGCCGTTCGGGCAGAGACC	0.572000														12			19		0	0	0.000175454	0	0
PSMG1	8624	broad.mit.edu	37	21	40553707	40553707	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:40553707T>G	uc002yxi.3	-	1	361	c.232A>C	c.(232-234)Aat>Cat	p.N78H	PSMG1_uc002yxj.3_Missense_Mutation_p.N78H|PSMG1_uc010gob.3_Intron	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 1 (PSMG1), transcript variant 1, mRNA.	78					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CCTACTGCATTATTTCCTATA	0.313000														53			43		0	0	0.000781405	0	0
TLR1	7096	broad.mit.edu	37	4	38799846	38799846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:38799846G>A	uc003gtl.3	-	3	881	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	TLR1_uc021xnn.1_Missense_Mutation_p.H203Y	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	203					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAATAAAATGGAATTCTTTG	0.383000														23			14		0	0	0.000308642	0	0
abParts	0	broad.mit.edu	37	14	107114004	107114004	+	RNA	SNP	A	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:107114004A>C	uc021ser.1	-	96		c.4225T>G								Parts of antibodies, mostly variable regions.																		GGCTGGACCAAGCCTTCCCCA	0.577000														89			5		0	0	0.000442599	0	0
COL5A3	50509	broad.mit.edu	37	19	10090695	10090695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:10090695C>T	uc002mmq.1	-	35	2719	c.2633G>A	c.(2632-2634)gGa>gAa	p.G878E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	878	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)			CCCAGGGAATCCTGGAGGGCC	0.607000														10			10		0	0	0.000442599	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039583	193039583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:193039583G>A	uc011bsq.2	-	15	1802	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	601					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGCTCGAGGAAAATGGAAA	0.502000														17			27		0	0	0.000339439	0	0
NBEAL1	65065	broad.mit.edu	37	2	204075726	204075727	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:204075726_204075727GG>TT	uc002uzt.3	+	52	8077_8078	c.7744_7745GG>TT	c.(7744-7746)ggg>TTg	p.G2582L	NBEAL1_uc021vvj.1_Missense_Mutation_p.G1216L|NBEAL1_uc002uzu.3_Missense_Mutation_p.G77L	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2582							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAGTATCTAGGGTCTCAAATC	0.327000														541			13		0	0	6.4e-05	0	0
AFM	173	broad.mit.edu	37	4	74361037	74361037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:74361037G>A	uc003hhb.3	+	8	1110	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	360	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAATACTCAAGGAGACATCCA	0.348000														17			32		0	0	0.000409698	0	0
ITGAL	3683	broad.mit.edu	37	16	30516731	30516732	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:30516731_30516732GG>TT	uc002dyi.4	+	19	2490_2491	c.2314_2315GG>TT	c.(2314-2316)ggg>TTg	p.G772L	ITGAL_uc002dyj.4_Missense_Mutation_p.G688L|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	772					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAAGAACTGTGGGGAGGACAAG	0.525000														156			7		0	0	6.4e-05	0	0
CEP70	80321	broad.mit.edu	37	3	138219288	138219289	+	Missense_Mutation	DNP	CC	AA	AA	rs141208365	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:138219288_138219289CC>AA	uc003esl.3	-	14	1687_1688	c.1489_1490GG>TT	c.(1489-1491)gga>TTa	p.G497L	CEP70_uc011bmk.2_Missense_Mutation_p.G477L|CEP70_uc011bml.2_Missense_Mutation_p.G479L|CEP70_uc011bmm.2_Missense_Mutation_p.G345L|CEP70_uc003esm.3_Missense_Mutation_p.G497L	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	497					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTTCATTTCTCCAAGCCTAGTA	0.347000														409			15		0	0	6.4e-05	0	0
CD53	963	broad.mit.edu	37	1	111435097	111435097	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:111435097T>A	uc001dzw.3	+	3	365	c.194T>A	c.(193-195)gTa>gAa	p.V65E	CD53_uc001dzx.3_Missense_Mutation_p.V65E|CD53_uc010owa.2_Missense_Mutation_p.V65E	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	65					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATTATCATGGTAGTTGCCTTC	0.517000														67			23		0	0	0.000147802	0	0
ZNF436	80818	broad.mit.edu	37	1	23688771	23688771	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:23688771C>T	uc001bgt.3	-	2	1485	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	ZNF436_uc001bgu.3_Silent_p.G368G	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGAAGCTTTTCCCACAAGCAT	0.463000														33			39		0	0	0.000228196	0	0
GRIK5	2901	broad.mit.edu	37	19	42566912	42566912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:42566912C>T	uc002osj.1	-	2	375	c.340G>A	c.(340-342)Gag>Aag	p.E114K	GRIK5_uc010eib.1_Missense_Mutation_p.E33K	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	114						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CATCTCACCTCCTTCTCTCCA	0.617000														1			30		0	0	0.000227799	0	0
PDILT	204474	broad.mit.edu	37	16	20387405	20387405	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:20387405G>A	uc002dhc.1	-	3	751	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	176					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGAAGCCAACGATGACCAAGG	0.522000														26			12		0	0	0.000219431	0	0
TMBIM6	7009	broad.mit.edu	37	12	50146759	50146759	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:50146759C>T	uc001ruy.2	+	2	562	c.234C>T	c.(232-234)acC>acT	p.T78T	TMBIM6_uc001rux.2_Silent_p.T20T|TMBIM6_uc010sml.1_Silent_p.T20T|TMBIM6_uc001ruz.2_Silent_p.T20T	NM_001098576	NP_003208	P55061	BI1_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 6 (TMBIM6), transcript variant 2, mRNA.	20					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTCTTAGAACCCCGTCAACGC	0.433000														23			30		0	0	0.000491102	0	0
WIPF2	147179	broad.mit.edu	37	17	38430092	38430092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:38430092C>T	uc002hug.1	+	5	1261	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	WIPF2_uc002huh.1_Missense_Mutation_p.P191S|WIPF2_uc010cww.1_Missense_Mutation_p.P191S|WIPF2_uc002hui.1_Missense_Mutation_p.P341S|WIPF2_uc010cwx.1_Missense_Mutation_p.P83S|WIPF2_uc010cwy.1_Missense_Mutation_p.P341S	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	341	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGATGCTCCCCCTCCCCCACC	0.612000										HNSCC(43;0.11)				16			29		0	0	0.000491102	0	0
RPTOR	57521	broad.mit.edu	37	17	78820345	78820345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:78820345C>T	uc002jyt.1	+	10	2090	c.1285C>T	c.(1285-1287)Cca>Tca	p.P429S	RPTOR_uc010wuf.1_Missense_Mutation_p.P244S|RPTOR_uc010wug.1_Missense_Mutation_p.P429S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	429					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GAACCGAAACCCACCCGAACA	0.622000														29			19		0	0	0.000229342	0	0
SGCB	6443	broad.mit.edu	37	4	52894173	52894173	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:52894173G>A	uc003gzj.2	-	4	774	c.714C>T	c.(712-714)acC>acT	p.T238T	SGCB_uc011bzp.1_Silent_p.T168T	NM_000232	NP_000223	Q16585	SGCB_HUMAN	Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.	238	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GAAATTCAATGGTTTTGCCCA	0.358000														66			73		0	0	0.000781405	0	0
NSMAF	8439	broad.mit.edu	37	8	59515881	59515881	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:59515881G>A	uc011lee.2	-	12	1087	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	NSMAF_uc003xtt.3_Silent_p.S311S	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	311	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACTGATAGTTGGAAAGGTGTC	0.547000														87			34		0	0	0.000409698	0	0
HINFP	25988	broad.mit.edu	37	11	119003888	119003888	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:119003888G>A	uc001pvp.3	+	9	1342	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K	HINFP_uc021qrj.1_Silent_p.K366K|HINFP_uc001pvq.3_Silent_p.K366K|HINFP_uc001pvr.3_Silent_p.K119K	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	366					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACCTTCGCAAGAAGCACCAGT	0.502000														6			61		0	0	0.000781405	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501390	90501390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:90501390G>A	uc004app.4	+	3	2023	c.1988G>A	c.(1987-1989)aGg>aAg	p.R663K	FAM75E1_uc004apo.1_Missense_Mutation_p.R475K	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	663						integral to membrane											TTCCCAGGGAGGCCCCAGAGT	0.612000														16			6		0	0	3.59834e-05	0	0
CTDP1	9150	broad.mit.edu	37	18	77478004	77478004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:77478004C>T	uc002lnh.2	+	9	2552	c.2405C>T	c.(2404-2406)cCc>cTc	p.P802L	CTDP1_uc002lni.2_Missense_Mutation_p.P802L|CTDP1_uc010drd.2_Missense_Mutation_p.P802L|CTDP1_uc021ult.1_Missense_Mutation_p.P683L	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	802					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGCCAGGAGCCCTCTTCCTTC	0.657000														20			9		0	0	0.000274275	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442831	20442831	+	Silent	SNP	C	G	G	rs150798636	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:20442831C>G	uc001bcz.3	-	1	197	c.180G>C	c.(178-180)acG>acC	p.T60T	PLA2G2D_uc009vpo.3_Non-coding_Transcript	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	60					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTACCAGTCCGTGGCATCTT	0.522000										Multiple Myeloma(11;0.12)				13			23		0	0	0.000878237	0	0
XIRP2	129446	broad.mit.edu	37	2	168106203	168106203	+	Silent	SNP	T	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:168106203T>A	uc002udx.3	+	8	8390	c.8301T>A	c.(8299-8301)gcT>gcA	p.A2767A	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.A2592A|XIRP2_uc010fpq.3_Silent_p.A2545A|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2592					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATCTCTGGCTGAAAGACATT	0.373000														1			15		0	0	0.000308642	0	0
H2BFXP	767811	broad.mit.edu	37	X	103316381	103316381	+	RNA	SNP	T	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:103316381T>A	uc004elt.1	-	2		c.499A>T								Homo sapiens H2B histone family, member X, pseudogene (H2BFXP), non-coding RNA.																		CACTAGGGCATGAGCTGTTTC	0.458000														11			9		0	0	6.40141e-05	0	0
KCNB2	9312	broad.mit.edu	37	8	73849485	73849485	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:73849485A>T	uc003xzb.3	+	2	2483	c.1895A>T	c.(1894-1896)aAg>aTg	p.K632M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	632					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)			TTGCAGATGAAGTTCCCAACC	0.602000														127			40		0	0	0.000680045	0	0
FAM120C	54954	broad.mit.edu	37	X	54162931	54162931	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:54162931G>A	uc004dsz.4	-	4	1334	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	FAM120C_uc011moh.2_Silent_p.S417S	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	417										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						TACCTAGAAAGGAGGGACCCA	0.478000														0			55		0	0	0.000781405	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874587	24874587	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:24874587G>T	uc001isb.2	-	25	5118	c.4631C>A	c.(4630-4632)tCt>tAt	p.S1544Y	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1543					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCCAGAGTCAGAGCCTGTCTC	0.517000														24			24		2.39556e-15	3.07319e-14	0.000375601	1	0
PDE6C	5146	broad.mit.edu	37	10	95400235	95400235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:95400235G>A	uc001kiu.4	+	12	1796	c.1658G>A	c.(1657-1659)aGg>aAg	p.R553K		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	553					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TACACTGTGAGGAAAGGGTAC	0.448000														11			10		0	0	0.00010058	0	0
TRIB2	28951	broad.mit.edu	37	2	12858523	12858523	+	Silent	SNP	A	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:12858523A>T	uc002rbv.4	+	0	1526	c.90A>T	c.(88-90)atA>atT	p.I30I	TRIB2_uc010yjp.2_Intron	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	30					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTCGTCTATAAGGTCCGCGG	0.542000											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			38		0	0	0.000953801	0	0
KCNK13	56659	broad.mit.edu	37	14	90650588	90650588	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:90650588C>T	uc001xye.1	+	1	910	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	156						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCGCCTACATCATGAAGTCGT	0.582000														55			40		0	0	0.000509022	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383128	41383128	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:41383128C>T	uc002opm.3	-	6	1670	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	CYP2A7_uc002opo.3_Silent_p.K376K|CYP2A7_uc002opn.3_Silent_p.K325K	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	376						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.K376fs*24(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTTGGTGTCCTTTTTAACCC	0.542000														1			48		0	0	0.000781405	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773395	137773395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:137773395G>A	uc003vtz.3	+	1	229	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Missense_Mutation_p.G48R|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Missense_Mutation_p.G48R|AKR1D1_uc011kqe.1_Missense_Mutation_p.G48R|RN7SK_uc022amj.1_5'Flank	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	48					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TATTGACACAGGGTACCGACA	0.493000														1			29		0	0	0.000227799	0	0
RFPL3	10738	broad.mit.edu	37	22	32756441	32756441	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:32756441G>A	uc003amj.3	+	1	781	c.576G>A	c.(574-576)tgG>tgA	p.W192*	RFPL3_uc010gwn.3_Nonsense_Mutation_p.W163*|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	192	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCACAGAATGGGACCTGGGAG	0.562000														63			38		0	0	0.000437636	0	0
ZNF766	90321	broad.mit.edu	37	19	52793753	52793753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:52793753C>T	uc002pyt.1	+	4	1131	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	ZNF766_uc002pyr.1_Missense_Mutation_p.R237C|ZNF766_uc002pys.1_3'UTR	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	Homo sapiens zinc finger protein 766 (ZNF766), mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TTGGAGAATTCGTACAGGAGA	0.438000														1			28		0	0	0.000147802	0	0
RC3H2	54542	broad.mit.edu	37	9	125621031	125621031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:125621031C>T	uc010mwc.1	-	11	2441	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.E734K|RC3H2_uc004bne.4_Missense_Mutation_p.E734K	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	734						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.R733R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTATATCTTTCCCGCAAAGAT	0.443000														30			38		0	0	0.000953801	0	0
NUP210	23225	broad.mit.edu	37	3	13367412	13367412	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:13367412G>A	uc003bxv.1	-	32	4610	c.4527C>T	c.(4525-4527)agC>agT	p.S1509S		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1509					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGCCGAGGAGCTCCAGGTTC	0.627000														55			41		0	0	0.000680045	0	0
CILP	8483	broad.mit.edu	37	15	65490536	65490536	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:65490536C>T	uc002aon.2	-	8	2269	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	696					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACCAGAGTTTCACTGTGGATA	0.478000														61			32		0	0	0.00058488	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160672014	160672014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:160672014G>A	uc002ubb.4	-	30	4525	c.4451C>T	c.(4450-4452)tCt>tTt	p.S1484F	LY75-CD302_uc010fos.3_Missense_Mutation_p.S1484F|LY75-CD302_uc002ubc.4_Missense_Mutation_p.S1484F	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1484	C-type lectin 9.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATTTCCAGGAGATGTTTGGCC	0.363000														4			71		0	0	0.000781405	0	0
INTS2	57508	broad.mit.edu	37	17	59988919	59988919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:59988919G>A	uc002izn.3	-	6	1016	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	INTS2_uc002izm.3_Missense_Mutation_p.R306W	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	314					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AACCAAGTCCGGACTTTCGCA	0.393000														27			33		0	0	0.000814825	0	0
KRT6A	3853	broad.mit.edu	37	12	52886863	52886863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:52886863G>A	uc001sam.3	-	0	319	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	37	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGACACGGAGACGCTGCT	0.662000														53			13		0	0	0.000219431	0	0
ESPNP	284729	broad.mit.edu	37	1	17029238	17029238	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:17029238C>T	uc001azn.1	-	5	1128	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GGAGTTTGTTCTTGGTCTGCA	0.647000														81			7		0	0	0.000157383	0	0
ADK	132	broad.mit.edu	37	10	76074471	76074471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:76074471G>A	uc001jwi.3	+	3	335	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	ADK_uc010qlb.2_Missense_Mutation_p.G81S|ADK_uc001jwj.3_Missense_Mutation_p.G64S|ADK_uc010qlc.2_Missense_Mutation_p.G46S	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	81					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	TCATGCTGGTGGCTCTACCCA	0.323000														7			7		0	0	0.000157383	0	0
CA10	56934	broad.mit.edu	37	17	50149694	50149694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:50149694C>T	uc002itv.4	-	2	875	c.139G>A	c.(139-141)Gga>Aga	p.G47R	CA10_uc002itw.4_Missense_Mutation_p.G41R|CA10_uc002itx.4_Missense_Mutation_p.G41R|CA10_uc002ity.4_Missense_Mutation_p.G41R|CA10_uc002itz.2_Missense_Mutation_p.G41R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	41					brain development			p.P47S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ACAAAGCTTCCCTGGACCACC	0.353000														35			23		0	0	0.000147802	0	0
MXRA5	25878	broad.mit.edu	37	X	3229292	3229292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:3229292C>T	uc004crg.4	-	6	7109	c.6952G>A	c.(6952-6954)Gag>Aag	p.E2318K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2318	Ig-like C2-type 7.					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)				TCTCCTTCCTCCCTCATCCCC	0.542000														1			63		0	0	0.000781405	0	0
LCT	3938	broad.mit.edu	37	2	136570041	136570041	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:136570041C>T	uc002tuu.1	-	6	2204	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	731	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G731E(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCTCCTTATCCCCCAGGGCA	0.512000														7			68		0	0	0.000781405	0	0
RASEF	158158	broad.mit.edu	37	9	85619421	85619421	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:85619421G>A	uc004amo.1	-	8	1455	c.1194C>T	c.(1192-1194)ggC>ggT	p.G398G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	398					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCTGTCATAGCCTAGAGGTT	0.338000														13			9		0	0	6.40141e-05	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586603	1586603	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:1586603G>A	uc003skv.4	-	8	1544	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	TMEM184A_uc003skt.4_Silent_p.P388P|TMEM184A_uc021zyr.1_Silent_p.P214P	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	409						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGTCCTCCGAGGGGATCAGCA	0.721000														10			4		0	0	0.00024832	0	0
IGFLR1	79713	broad.mit.edu	37	19	36231322	36231322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:36231322G>A	uc002obd.4	-	2	568	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	IGFLR1_uc002obb.3_Intron|IGFLR1_uc002obc.3_Missense_Mutation_p.P101S|IGFLR1_uc010xsy.2_Non-coding_Transcript|IGFLR1_uc010eej.3_Missense_Mutation_p.P181S	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	Homo sapiens IGF-like family receptor 1 (IGFLR1), mRNA.	101						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CCCGCGGCGGGAGTAGGGGTC	0.692000														0			14		0	0	0.00074312	0	0
COL1A2	1278	broad.mit.edu	37	7	94049546	94049546	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:94049546G>A	uc003ung.1	+	35	2551	c.2080_splice	c.e35-1	p.G694_splice	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	694			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|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)	CCATTATAGGGCGAAGCTGGG	0.502000										HNSCC(75;0.22)				4			44		0	0	0.000374591	0	0
NCOR2	9612	broad.mit.edu	37	12	124841263	124841263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:124841263G>A	uc021rga.1	-	22	3304	c.3187C>T	c.(3187-3189)Ccc>Tcc	p.P1063S	NCOR2_uc021rgb.1_Missense_Mutation_p.P1047S|NCOR2_uc010tbb.2_Missense_Mutation_p.P1056S|NCOR2_uc010tbc.2_Missense_Mutation_p.P1046S|NCOR2_uc021rgc.1_Missense_Mutation_p.P1046S|NCOR2_uc010tba.2_Missense_Mutation_p.P1064S|NCOR2_uc001ugj.1_Missense_Mutation_p.P1064S	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1064					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGGGCACGGGGAAGGGCAGG	0.682000														5			10		0	0	0.000442599	0	0
CLCN3	1182	broad.mit.edu	37	4	170618536	170618537	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:170618536_170618537CC>TT	uc003ish.3	+	8	1773_1774	c.1214_1215CC>TT	c.(1213-1215)gcc>gTT	p.A405V	CLCN3_uc003isi.3_Missense_Mutation_p.A405V|CLCN3_uc011cka.2_Missense_Mutation_p.A378V|CLCN3_uc011cjz.2_Missense_Mutation_p.A388V|CLCN3_uc003isj.2_Missense_Mutation_p.A378V	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	405					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CTTTGGGGAGCCTTTTTCATTA	0.436000														85			39		0	0	6.4e-05	0	0
STC1	6781	broad.mit.edu	37	8	23702457	23702457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:23702457C>T	uc003xdw.1	-	3	854	c.570G>A	c.(568-570)atG>atA	p.M190I		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	190					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGAGGCTGGCCATGTTAGGCC	0.517000														21			19		0	0	0.000958276	0	0
PIGG	54872	broad.mit.edu	37	4	501335	501335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:501335G>A	uc003gak.4	+	3	848	c.712G>A	c.(712-714)Gag>Aag	p.E238K	PIGG_uc003gaj.4_Missense_Mutation_p.E238K|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Intron|PIGG_uc003gal.4_Missense_Mutation_p.E149K|PIGG_uc011buw.2_Missense_Mutation_p.E116K|PIGG_uc003gam.3_Missense_Mutation_p.E149K|PIGG_uc003gan.3_Missense_Mutation_p.E149K	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	238					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GAAGCTGAGCGAGATGGACAG	0.557000														16			11		0	0	0.000673444	0	0
C19orf55	148137	broad.mit.edu	37	19	36250881	36250881	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:36250881C>T	uc021usz.1	+	2	373	c.300C>T	c.(298-300)tcC>tcT	p.S100S	HSPB6_uc002obn.1_5'Flank|C19orf55_uc002obo.1_Silent_p.S100S|C19orf55_uc002obp.3_Silent_p.S100S	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	100										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGGGGACTCCGTGGTGGCCA	0.597000														0			7		0	0	0.000157383	0	0
FAM108B1	51104	broad.mit.edu	37	9	74481741	74481741	+	Silent	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:74481741A>G	uc004ail.3	-	3	1431	c.829T>C	c.(829-831)Ttg>Ctg	p.L277L	FAM108B1_uc004aim.1_Silent_p.L277L	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.	277						extracellular region	hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						AACTGTTTCAACCTTTCAAGA	0.408000														12			10		0	0	0.00010058	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534283	3534283	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:3534283G>A	uc002kmf.3	-	9	2915	c.2388C>T	c.(2386-2388)ttC>ttT	p.F796F	DLGAP1_uc010wyz.2_Silent_p.F796F|DLGAP1_uc010dkn.3_Silent_p.F504F|DLGAP1_uc002kme.2_Silent_p.F494F|DLGAP1_uc010wyw.2_Silent_p.F502F|DLGAP1_uc010wyx.2_Silent_p.F518F|DLGAP1_uc010wyy.2_Silent_p.F480F|DLGAP1_uc002kmg.3_Silent_p.F494F	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	796					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.W795S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAAGCTTCAGGAACCAGTGGC	0.572000														21			13		0	0	0.000219431	0	0
OSGIN2	734	broad.mit.edu	37	8	90937444	90937444	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:90937444A>G	uc003yeh.3	+	5	1594	c.1334A>G	c.(1333-1335)aAg>aGg	p.K445R	OSGIN2_uc003yeg.3_Missense_Mutation_p.K401R	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	401					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCTGGATTGAAGAAAATATTT	0.408000														38			75		0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82580360	82580360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:82580360G>A	uc003uhx.2	-	5	9833	c.9544C>T	c.(9544-9546)Ccc>Tcc	p.P3182S	PCLO_uc003uhv.2_Missense_Mutation_p.P3182S|PCLO_uc010lec.3_Missense_Mutation_p.P147S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3113	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTAAAGTGGGAACAGAGTCT	0.428000														0			16		0	0	0.000958276	0	0
CXXC1	30827	broad.mit.edu	37	18	47812604	47812604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:47812604G>A	uc002leq.4	-	3	980	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	CXXC1_uc002lep.4_5'UTR|CXXC1_uc002ler.4_Missense_Mutation_p.R83C|CXXC1_uc010doy.3_Missense_Mutation_p.R83C	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	83					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGCCGATAGCGAATCTCTAGC	0.577000														52			53		0	0	0.000781405	0	0
DYDC2	84332	broad.mit.edu	37	10	82122713	82122713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:82122713G>A	uc001kca.1	+	3	534	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.E52K	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	52							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CCAGAATAGGGAAAAGAAGAT	0.493000														48			42		0	0	0.000589545	0	0
OR4C6	219432	broad.mit.edu	37	11	55433174	55433174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:55433174G>A	uc010rik.2	+	0	532	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTTTATATGTGATTTGTTTCA	0.448000														7			12		0	0	0.000219431	0	0
TMEM161B	153396	broad.mit.edu	37	5	87502314	87502314	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:87502314A>G	uc003kjc.3	-	6	726	c.601T>C	c.(601-603)Ttt>Ctt	p.F201L	TMEM161B_uc011cty.2_Missense_Mutation_p.F190L|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_Missense_Mutation_p.F68L|TMEM161B_uc011ctx.2_Missense_Mutation_p.F19L	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	201						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAATTTGTAAACCCTGTGGGG	0.294000														11			13		0	0	0.000219431	0	0
ACTN2	88	broad.mit.edu	37	1	236923029	236923029	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:236923029G>A	uc001hyf.2	+	18	2511	c.2307G>A	c.(2305-2307)aaG>aaA	p.K769K	ACTN2_uc001hyg.2_Silent_p.K561K|ACTN2_uc009xgi.1_Silent_p.K769K|ACTN2_uc010pxu.1_Silent_p.K458K	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	769	EF-hand 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AACAGAGGAAGAATGGCCTGA	0.428000														108			34		0	0	0.000319135	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144921851	144921851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:144921851G>A	uc021ouh.1	-	8	1480	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S393F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S459F|PDE4DIP_uc001emd.2_Missense_Mutation_p.S393F|PDE4DIP_uc001emc.2_Missense_Mutation_p.S393F|PDE4DIP_uc001emb.1_Missense_Mutation_p.S556F|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	393					cellular protein complex assembly	Golgi apparatus|centrosome|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)		ATGTTTCCAAGAAGCCTCTTT	0.438000			T	PDGFRB	MPD									592			147		0	0	0.000781405	0	0
GRM8	2918	broad.mit.edu	37	7	126173704	126173704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:126173704C>T	uc003vlr.2	-	7	2043	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E578K|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	578					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAATGCCACTCCAATTTGATG	0.512000										HNSCC(24;0.065)				1			21		0	0	0.000175454	0	0
MOV10L1	54456	broad.mit.edu	37	22	50546581	50546581	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:50546581G>A	uc003bjj.3	+	3	542	c.459G>A	c.(457-459)aaG>aaA	p.K153K	MOV10L1_uc003bjk.4_Silent_p.K153K|MOV10L1_uc011arp.2_Silent_p.K133K|MOV10L1_uc010han.3_Silent_p.K133K	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	153					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCCTGCAAGGGAGACTGGG	0.532000														26			21		0	0	0.000295444	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22196451	22196451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:22196451C>T	uc003svg.3	-	15	1467	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	RAPGEF5_uc011jyl.1_Missense_Mutation_p.G66E	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	235	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGTCACAGTTCCTCTATGCTG	0.458000														56			11		0	0	0.00010058	0	0
DEFB119	245932	broad.mit.edu	37	20	29966176	29966176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:29966176C>T	uc002wvs.3	-	1	200	c.80G>A	c.(79-81)gGa>gAa	p.G27E	DEFB119_uc002wvt.3_Intron	NM_173460	NP_775689	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 2, mRNA.	27					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			caggcagcatcccactgtcct	0.493000														39			28		0	0	0.000491102	0	0
EDEM1	9695	broad.mit.edu	37	3	5229591	5229591	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:5229591A>C	uc003bqi.3	+	0	233	c.101A>C	c.(100-102)tAc>tCc	p.Y34S	EDEM1_uc011asz.1_Intron|EDEM1_uc021wsl.1_5'Flank	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	34					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ATGGGCTTCTACCAGCGCTTT	0.701000														6			5		0	0	0.000602214	0	0
SAFB	6294	broad.mit.edu	37	19	5667165	5667165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:5667165C>T	uc002mcg.3	+	17	2614	c.2443C>T	c.(2443-2445)Cct>Tct	p.P815S	SAFB_uc002mcf.3_Missense_Mutation_p.P815S|SAFB_uc002mce.4_Missense_Mutation_p.P814S|SAFB_uc010xis.2_Missense_Mutation_p.P746S|SAFB_uc010xit.2_Missense_Mutation_p.P657S|SAFB_uc010xir.2_Missense_Mutation_p.P814S|SAFB_uc010xiu.2_Missense_Mutation_p.P614S	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	815	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGGGCTGCCTCCTCCCCCCAG	0.697000														3			5		0	0	0.000602214	0	0
DOCK4	9732	broad.mit.edu	37	7	111428734	111428734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:111428734C>T	uc003vfy.3	-	32	3762	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	DOCK4_uc011kmm.2_Missense_Mutation_p.E27K|DOCK4_uc003vfw.3_Missense_Mutation_p.E570K|DOCK4_uc003vfx.3_Missense_Mutation_p.E1129K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1129	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTGAAGAGCTCGCGGTATGTT	0.448000														0			6		0	0	0.000274275	0	0
FER1L5	90342	broad.mit.edu	37	2	97370339	97370339	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:97370339G>A	uc010fia.3	+	51	6192	c.6192G>A	c.(6190-6192)aaG>aaA	p.K2064K	FER1L5_uc002sws.4_Silent_p.K773K|FER1L5_uc010yus.2_Silent_p.K772K	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	2064						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAAACCTAAAGCCTACAATAG	0.453000														11			117		0	0	0.000781405	0	0
NOC4L	79050	broad.mit.edu	37	12	132632303	132632303	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:132632303C>T	uc001ujz.1	+	4	620	c.579C>T	c.(577-579)gcC>gcT	p.A193A		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	193					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ATGCCGTGGCCCGGGTCACTG	0.682000														23			34		0	0	0.000270559	0	0
PRTG	283659	broad.mit.edu	37	15	55929375	55929375	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:55929375G>A	uc002adg.3	-	14	2664	c.2616C>T	c.(2614-2616)caC>caT	p.H872H		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	872	Fibronectin type-III 5.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TACCTTCACGGTGTAAGACCT	0.398000														47			52		0	0	0.000781405	0	0
ANK1	286	broad.mit.edu	37	8	41548013	41548013	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:41548013G>A	uc003xok.3	-	31	4047	c.3963C>T	c.(3961-3963)aaC>aaT	p.N1321N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.N637N|ANK1_uc003xoi.3_Silent_p.N1321N|ANK1_uc003xoj.3_Silent_p.N1321N|ANK1_uc003xol.3_Silent_p.N1321N|ANK1_uc003xom.3_Silent_p.N1362N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1321					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.N1321I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCAGACGGTTCTCCCGAA	0.567000														29			20		0	0	0.000175454	0	0
TPTE	7179	broad.mit.edu	37	21	10996106	10996106	+	RNA	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:10996106C>T	uc002yis.1	-	11		c.2080G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						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)		TTGCCCAGTTCGACTTCTTTG	0.413000														46			17		0	0	0.000295444	0	0
MB21D2	151963	broad.mit.edu	37	3	192517330	192517330	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:192517330G>A	uc011bsp.2	-	1	642	c.321C>T	c.(319-321)gtC>gtT	p.V107V		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	107										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CCCGGGCATAGACATTAAGCT	0.522000														27			14		0	0	0.000151284	0	0
SLC44A4	80736	broad.mit.edu	37	6	31842513	31842514	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:31842513_31842514CC>AA	uc010jti.3	-	5	518_519	c.452_453GG>TT	c.(451-453)ggg>gTT	p.G151V	SLC44A4_uc011dol.2_Missense_Mutation_p.G75V|SLC44A4_uc011dom.2_Intron	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	151						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TCCAGGGTACCCCTGGCAGACA	0.535000														558			13		0	0	6.4e-05	0	0
AK310441	0	broad.mit.edu	37	1	148891738	148891738	+	RNA	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:148891738C>T	uc009wkv.1	+	8		c.1040C>T								Homo sapiens cDNA, FLJ17483.																		GGATGATAGTCGAGGTAATAC	0.353000														40			6		0	0	0.000151284	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50414964	50414964	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:50414964C>T	uc003daq.3	-	16	1598	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L	CACNA2D2_uc003dap.3_Silent_p.L520L	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	520	Cache.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CGCCCAGGATCAGCTGGTTCT	0.602000														20			8		0	0	0.000673444	0	0
ZNF300	91975	broad.mit.edu	37	5	150282706	150282706	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:150282706G>A	uc021yfx.1	-	3	488	c.60C>T	c.(58-60)tcC>tcT	p.S20S	ZNF300_uc021yfy.1_Silent_p.S4S|ZNF300_uc021yfz.1_Intron	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	4	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACTCACCTGGGACTTCATCA	0.343000														40			6		0	0	0.000157383	0	0
STAB2	55576	broad.mit.edu	37	12	104086619	104086619	+	Silent	SNP	C	T	T	rs146582962	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:104086619C>T	uc001tjw.3	+	30	3513	c.3327C>T	c.(3325-3327)gtC>gtT	p.V1109V		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1109	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTCCATTGTCGATGGGGACA	0.458000														11			20		0	0	0.000720815	0	0
PGBD4	161779	broad.mit.edu	37	15	34395873	34395873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:34395873G>A	uc001zho.3	+	0	1600	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	381										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ATTCTGTGGTGAACTTATGGC	0.413000														64			55		0	0	0.000781405	0	0
ATM	472	broad.mit.edu	37	11	108203567	108203567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:108203567C>T	uc001pkb.1	+	52	8252	c.7867C>T	c.(7867-7869)Ctt>Ttt	p.L2623F	ATM_uc009yxr.1_Missense_Mutation_p.L2623F|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.L1275F|ATM_uc001pkg.1_Missense_Mutation_p.L980F	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2623					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.A2622V(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTTGAGGCACTTTGTGATGC	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				1			27		0	0	0.000184323	0	0
TPP1	1200	broad.mit.edu	37	11	6638091	6638091	+	Splice_Site	SNP	C	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:6638091C>G	uc001mel.1	-	7	749	c.688_splice	c.e7-1	p.F230_splice	TPP1_uc001mek.1_Splice_Site	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	230					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GCTCCAGGAACTATGGAGGGA	0.572000														49			30		0	0	0.000184323	0	0
MUCL1	118430	broad.mit.edu	37	12	55251990	55251990	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:55251990G>A	uc001sgk.3	+	3	305	c.237G>A	c.(235-237)tgG>tgA	p.W79*		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	79						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TACCCAAATGGGTTGGGGATC	0.418000														6			11		0	0	0.000151284	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:39604026C>T	uc003xnj.3	-	18	2214	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_uc003xnk.3_Silent_p.R694R|ADAM2_uc011lck.2_Silent_p.R650R|ADAM2_uc003xnl.3_Silent_p.R557R	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	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														45			31		0	0	0.000953801	0	0
DAGLA	747	broad.mit.edu	37	11	61511196	61511196	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:61511196C>T	uc001nsa.3	+	19	2480	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	788					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACACTGAGTCCCTGTACAGCT	0.682000														26			19		0	0	0.000175454	0	0
TRAPPC1	58485	broad.mit.edu	37	17	7833959	7833959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7833959G>A	uc002gjo.2	-	3	523	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|TRAPPC1_uc021tpk.1_Missense_Mutation_p.R100C|TRAPPC1_uc021tpl.1_Missense_Mutation_p.R135C|TRAPPC1_uc021tpm.1_Missense_Mutation_p.R100C|CNTROB_uc002gjp.3_5'Flank|CNTROB_uc002gjq.3_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	Homo sapiens trafficking protein particle complex 1 (TRAPPC1), transcript variant 1, mRNA.	135					ER to Golgi vesicle-mediated transport	endoplasmic reticulum				breast(1)|lung(2)	3		Prostate(122;0.173)				GGCAGAGAGCGAACATAGGAG	0.577000														33			26		0	0	0.000184323	0	0
VPS13B	157680	broad.mit.edu	37	8	100168820	100168821	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:100168820_100168821GG>AA	uc003yiv.3	+	14	2168_2169	c.2057_2058GG>AA	c.(2056-2058)cgg>cAA	p.R686Q	VPS13B_uc003yiw.3_Missense_Mutation_p.R686Q|VPS13B_uc003yit.3_Missense_Mutation_p.R686Q|VPS13B_uc003yiu.1_Missense_Mutation_p.R686Q|VPS13B_uc003yix.1_Missense_Mutation_p.R157Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	686					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)			CAGTCTCTTCGGCCTTTGCCAT	0.391000														135			46		0	0	6.4e-05	0	0
VTN	7448	broad.mit.edu	37	17	26696553	26696553	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:26696553C>T	uc002hbc.3	-	2	653	c.504G>A	c.(502-504)aaG>aaA	p.K168K	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	168	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GGGAACCGTTCTTGAGGTCGG	0.617000														36			26		0	0	0.000184323	0	0
MAP7	9053	broad.mit.edu	37	6	136693711	136693711	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:136693711C>T	uc011edg.2	-	7	1143	c.894G>A	c.(892-894)tcG>tcA	p.S298S	MAP7_uc011edf.2_Silent_p.S253S|MAP7_uc010kgu.3_Silent_p.S290S|MAP7_uc011edh.2_Silent_p.S253S|MAP7_uc010kgv.3_Silent_p.S290S|MAP7_uc010kgs.3_Silent_p.S122S|MAP7_uc011edi.2_Silent_p.S122S|MAP7_uc010kgq.2_Silent_p.S174S|MAP7_uc003qgz.3_Silent_p.S268S|MAP7_uc003qha.2_Silent_p.S231S|MAP7_uc010kgr.2_Silent_p.S122S|MAP7_uc010kgt.2_Silent_p.S290S|MAP7_uc003qhb.3_Non-coding_Transcript	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	268					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GTCGATCCATCGAATTTCTAG	0.507000														2			38		0	0	0.000509022	0	0
GDE1	51573	broad.mit.edu	37	16	19516342	19516342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:19516342C>T	uc002dgh.3	-	4	873	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	GDE1_uc002dgi.3_Missense_Mutation_p.G127R	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase 1 (GDE1), mRNA.	237	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						CGTGGTTTCCCATCTCCTGTA	0.398000														59			64		0	0	0.000781405	0	0
CRNN	49860	broad.mit.edu	37	1	152382272	152382272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:152382272C>T	uc001ezx.2	-	2	1360	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	429					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTCCCTGCCCTTCTGTCAC	0.597000														25			35		0	0	0.00058488	0	0
SPR	6697	broad.mit.edu	37	2	73115593	73115593	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:73115593T>C	uc002sik.2	+	1	505	c.455T>C	c.(454-456)gTg>gCg	p.V152A		NM_003124	NP_003115	P35270	SPRE_HUMAN	Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.	152					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity			lung(4)|ovary(2)	6						AACAGAACCGTGGTTAACATC	0.567000											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			4		0	0	0.00024832	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862938	67862938	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:67862938G>A	uc009xpn.1	-	13	2077	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*	CTNNA3_uc001jmw.2_Nonsense_Mutation_p.Q652*	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	652					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTTCGGTCTGAATGCTGGTG	0.488000														21			8		0	0	0.000274275	0	0
C12orf69	440087	broad.mit.edu	37	12	14959457	14959457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:14959457G>A	uc001rck.1	-	1	231	c.158C>T	c.(157-159)tCc>tTc	p.S53F	C12orf60_uc001rcj.4_Intron|C12orf69_uc021qvp.1_Missense_Mutation_p.S53F	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	Homo sapiens chromosome 12 open reading frame 69 (C12orf69), mRNA.	53						integral to membrane				large_intestine(1)|lung(1)|skin(1)	3						CATCTCAATGGAGGCCAGCCT	0.443000														102			35		0	0	0.000953801	0	0
DNAJC21	134218	broad.mit.edu	37	5	34937619	34937619	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:34937619C>T	uc003jjb.3	+	4	854	c.627C>T	c.(625-627)ttC>ttT	p.F209F	DNAJC21_uc003jjc.3_Silent_p.F209F|DNAJC21_uc010iuu.1_Silent_p.F93F	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	209					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGGTAGCTTTCATTCGTAAAA	0.463000														4			36		0	0	0.000814825	0	0
TEX14	56155	broad.mit.edu	37	17	56676714	56676714	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:56676714C>T	uc010dcz.2	-	13	2128	c.2010G>A	c.(2008-2010)ctG>ctA	p.L670L	TEX14_uc002iwr.2_Silent_p.L664L|TEX14_uc002iws.2_Silent_p.L664L|TEX14_uc010dda.2_Silent_p.L444L	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	670						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATCTTATCCAGCTCTTCTT	0.473000														59			40		0	0	0.000781405	0	0
CD244	51744	broad.mit.edu	37	1	160801213	160801213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:160801213C>T	uc009wtq.3	-	8	1262	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	CD244_uc001fxa.3_Missense_Mutation_p.G341E|CD244_uc009wtr.3_Missense_Mutation_p.G249E|CD244_uc009wtp.3_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	346					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.G341E(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTGACTCTTTCCAATCTGCAA	0.448000														70			71		0	0	0.000781405	0	0
LBP	3929	broad.mit.edu	37	20	36993260	36993260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:36993260C>T	uc002xic.1	+	7	810	c.775C>T	c.(775-777)Cca>Tca	p.P259S		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	259					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCACCGTTCTCCAGTTACCCT	0.502000														79			78		0	0	0.000781405	0	0
INVS	27130	broad.mit.edu	37	9	103002451	103002451	+	Missense_Mutation	SNP	C	T	T	rs2491097	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:103002451C>T	uc004bap.1	+	5	937	c.725C>T	c.(724-726)tCa>tTa	p.S242L	INVS_uc010mta.2_Missense_Mutation_p.S146L|INVS_uc011lve.1_Missense_Mutation_p.S146L|INVS_uc004bao.1_Missense_Mutation_p.S242L|INVS_uc004baq.1_Missense_Mutation_p.S146L|INVS_uc004bar.1_Missense_Mutation_p.S146L|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	242			S -> L (in dbSNP:rs2491097).		Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	p.T241T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTCTTGACCTCATATGAAAGC	0.438000														21			32		0	0	0.00058488	0	0
CSMD1	64478	broad.mit.edu	37	8	2813184	2813184	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:2813184G>A	uc022aqr.1	-	63	10311	c.9921C>T	c.(9919-9921)ttC>ttT	p.F3307F	CSMD1_uc011kwj.2_Silent_p.F2637F|CSMD1_uc010lrg.3_Silent_p.F1199F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3308	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCTGCGAGGAAAAAGCCTG	0.507000														13			14		0	0	0.000308642	0	0
DPYD	1806	broad.mit.edu	37	1	97700485	97700485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:97700485G>A	uc001drv.3	-	18	2502	c.2365C>T	c.(2365-2367)Ccc>Tcc	p.P789S		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	789					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCCAAAATGGGAAATCCAGGC	0.468000														29			11		0	0	6.40141e-05	0	0
ROS1	6098	broad.mit.edu	37	6	117710787	117710787	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:117710787G>A	uc003pxp.1	-	11	1684	c.1485C>T	c.(1483-1485)ccC>ccT	p.P495P	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	495					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATCAGCAAAGGGGATGCGAG	0.418000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									3			30		0	0	0.000491102	0	0
HYDIN	54768	broad.mit.edu	37	16	70926280	70926280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:70926280G>A	uc002ezr.3	-	55	9549	c.9398C>T	c.(9397-9399)cCt>cTt	p.P3133L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3134										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)				GCGCAGAACAGGCTGGTGCTC	0.483000														84			21		0	0	0.000720815	0	0
ASTN1	460	broad.mit.edu	37	1	176833599	176833600	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:176833599_176833600GG>AA	uc001glc.3	-	22	3917_3918	c.3705_3706CC>TT	c.(3703-3708)ctcctt>ctTTtt	p.L1236F	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1244					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTCCTGAAGGAGTCCATTGC	0.530000														25			16		0	0	6.4e-05	0	0
TEP1	7011	broad.mit.edu	37	14	20871927	20871927	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:20871927C>T	uc001vxe.3	-	5	1189	c.1149G>A	c.(1147-1149)cgG>cgA	p.R383R	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	383	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCGGTGCTTCCGAGGGTTGT	0.617000														60			45		0	0	0.000781405	0	0
ZNF680	340252	broad.mit.edu	37	7	63982563	63982563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:63982563G>A	uc003tta.2	-	3	742	c.569C>T	c.(568-570)tCa>tTa	p.S190L		NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CATGCAAAATGATTTGCCACA	0.308000														1			35		0	0	0.000409698	0	0
ZNF662	389114	broad.mit.edu	37	3	42956121	42956121	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:42956121C>T	uc003cmk.2	+	3	820	c.634C>T	c.(634-636)Cta>Tta	p.L212L	ZNF662_uc003cmi.2_Silent_p.L186L|ZNF662_uc003cmj.2_Silent_p.L78L	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TCACAAAATTCTAAATGAGCA	0.353000														30			23		0	0	0.000375601	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353836	77353836	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:77353836G>A	uc002ffc.4	-	15	2861	c.2442C>T	c.(2440-2442)ttC>ttT	p.F814F	ADAMTS18_uc010chc.1_Silent_p.F402F|ADAMTS18_uc002ffe.1_Silent_p.F510F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	814	Spacer.				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						TGGTCCCAGCGAAGGGGAACT	0.577000														23			16		0	0	0.00074312	0	0
SALL1	6299	broad.mit.edu	37	16	51173808	51173808	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:51173808G>A	uc021tif.1	-	1	2356	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	SALL1_uc021tid.1_Silent_p.F678F|SALL1_uc021tie.1_Silent_p.F775F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	775					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGCGTTCGTGAACTTCTTCT	0.557000														38			27		0	0	0.000409698	0	0
DBH	1621	broad.mit.edu	37	9	136501648	136501648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:136501648C>T	uc004cel.3	+	0	164	c.155C>T	c.(154-156)cCc>cTc	p.P52L		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	52					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TATCACATCCCCCTGGACCCG	0.642000														7			11		0	0	0.000219431	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774132	31774132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:31774132G>A	uc001wrf.4	-	31	5403	c.5218C>T	c.(5218-5220)Cct>Tct	p.P1740S	HEATR5A_uc010ami.3_Missense_Mutation_p.P1345S	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1734							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACACTGCAGGAAGTTCGGAA	0.418000														18			19		0	0	0.000958276	0	0
COL14A1	7373	broad.mit.edu	37	8	121326192	121326192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:121326192G>A	uc003yox.3	+	37	4742	c.4477G>A	c.(4477-4479)Gaa>Aaa	p.E1493K	COL14A1_uc003yoz.3_Missense_Mutation_p.E458K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1493	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCCTCGGGGTGAAATTGGTCT	0.483000														146			51		0	0	0.000781405	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512983	69512983	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:69512983G>A	uc021xow.1	-	5	1590	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	478					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCTGCGACTCGAAGGTGCTTG	0.478000														31			51		0	0	0.000781405	0	0
HERC2	8924	broad.mit.edu	37	15	28502305	28502305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:28502305G>A	uc001zbj.3	-	16	2525	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	HERC2_uc001zbl.1_Missense_Mutation_p.R502W	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	807					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R807Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCACCTGCCGAAGCAGGAGA	0.562000														33			46		0	0	0.000781405	0	0
CDH10	1008	broad.mit.edu	37	5	24593451	24593451	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:24593451T>C	uc003jgr.2	-	1	655	c.149A>G	c.(148-150)cAt>cGt	p.H50R	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTTTTGACGATGGAGAATTTT	0.393000										HNSCC(23;0.051)				21			12		0	0	0.000219431	0	0
CLCN4	1183	broad.mit.edu	37	X	10182112	10182112	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:10182112C>T	uc004csy.4	+	10	2398	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	CLCN4_uc011mid.2_Silent_p.L562L	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	656	CBS 1.					early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACTGATTCTCGCAATAAGTG	0.498000														0			18		0	0	0.000958276	0	0
TLE4	7091	broad.mit.edu	37	9	82242321	82242321	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:82242321G>A	uc004ald.3	+	5	1176	c.327G>A	c.(325-327)cgG>cgA	p.R109R	TLE4_uc004alc.3_Silent_p.R116R|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Intron|TLE4_uc010mps.3_Silent_p.R109R|TLE4_uc004alf.3_Silent_p.R54R	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0								p.R116R(2)		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						CTGTGGAACGGGCCAAGCAGG	0.453000														33			16		0	0	0.000175454	0	0
SHROOM4	57477	broad.mit.edu	37	X	50378446	50378446	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:50378446C>T	uc004dpe.2	-	3	653	c.627G>A	c.(625-627)gaG>gaA	p.E209E	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Silent_p.E93E	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	209					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)					AGGCTGGCTCCTCTGGCCTGA	0.587000														1			18		0	0	0.000566183	0	0
AHSA1	10598	broad.mit.edu	37	14	77929095	77929095	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:77929095C>T	uc001xtw.3	+	3	625	c.465C>T	c.(463-465)ctC>ctT	p.L155L	AHSA1_uc010tvk.1_Silent_p.L155L	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.	155					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCAGCACCCTCAAAACAGGTA	0.458000														32			29		0	0	0.000339439	0	0
FAT4	79633	broad.mit.edu	37	4	126411080	126411080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:126411080C>T	uc003ifj.4	+	16	13103	c.13103C>T	c.(13102-13104)tCt>tTt	p.S4368F	FAT4_uc011cgp.2_Missense_Mutation_p.S2609F|FAT4_uc003ifi.1_Missense_Mutation_p.S1845F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4368	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCATTGCTTCTATGTGGTAT	0.443000														111			136		0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104131519	104131519	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:104131519G>A	uc001tjw.3	+	52	5844	c.5658G>A	c.(5656-5658)ctG>ctA	p.L1886L	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1886					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATCCCACCCTGGGGGGCCGCT	0.507000														11			21		0	0	0.00047179	0	0
C5orf22	55322	broad.mit.edu	37	5	31538428	31538428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:31538428G>A	uc003jhj.4	+	3	566	c.439G>A	c.(439-441)Gag>Aag	p.E147K	C5orf22_uc011cnw.1_Intron|C5orf22_uc003jhk.4_Intron	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	Homo sapiens chromosome 5 open reading frame 22 (C5orf22), mRNA.	147										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AGACCAGCTAGAGAACCAAAA	0.358000														2			61		0	0	0.000781405	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676643	44676643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:44676643G>A	uc010zxl.1	+	15	2076	c.2000G>A	c.(1999-2001)gGg>gAg	p.G667E	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.G644E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	667					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGGGCGATGGGATACGAGGT	0.612000														13			11		0	0	0.00010058	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766574	27766574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:27766574C>T	uc011mjy.2	+	0	1649	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.									p.P488H(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTCTTGAACCCCACCCTTAC	0.493000														0			11		0	0	6.40141e-05	0	0
CFH	3075	broad.mit.edu	37	1	196874292	196874292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:196874292C>T	uc001gtp.3	+	2	448	c.311C>T	c.(310-312)tCc>tTc	p.S104F	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.S103F|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	464	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCTGAATCTTCCTCTATTTAT	0.274000														27			11		0	0	0.000673444	0	0
GLB1L3	112937	broad.mit.edu	37	11	134158708	134158708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:134158708C>T	uc009zdf.3	+	6	1013	c.653C>T	c.(652-654)cCt>cTt	p.P218L	GLB1L3_uc010scs.2_Missense_Mutation_p.P218L|GLB1L3_uc010sct.2_Missense_Mutation_p.P70L	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	218					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CAGGCAGGCCCTGTCATCGCG	0.522000														0			27		0	0	0.000339439	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433651	204433651	+	Silent	SNP	G	A	A	rs116461271	by1000genomes	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:204433651G>A	uc001haw.3	-	4	1595	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	PIK3C2B_uc010pqv.2_Silent_p.L372L|PIK3C2B_uc001hax.1_Silent_p.L372L|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	372					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCTCATCCCCGAGGTGCTCTG	0.517000														54			78		0	0	0.000781405	0	0
ITPR1	3708	broad.mit.edu	37	3	4725105	4725105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:4725105G>A	uc003bqc.3	+	25	3502	c.3152G>A	c.(3151-3153)gGc>gAc	p.G1051D	ITPR1_uc021wsi.1_Missense_Mutation_p.G1057D|ITPR1_uc021wsj.1_Missense_Mutation_p.G1042D|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1066					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GATGACCACGGCGGCAGAACC	0.587000														83			71		0	0	0.000781405	0	0
NBPF1	55672	broad.mit.edu	37	1	16913547	16913548	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:16913547_16913548GG>TT	uc009vos.1	-	10	1663_1664	c.775_776CC>AA	c.(775-777)cca>AAa	p.P259K	NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	259	NBPF 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)		GAGGCTACCTGGGAGAATGTTT	0.401000														401			10		0	0	6.4e-05	0	0
OR52M1	119772	broad.mit.edu	37	11	4566853	4566853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:4566853C>T	uc010qyf.2	+	0	433	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145G(2)|p.R145H(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTGGTGGGTCGTTTGGGGCT	0.522000														21			7		0	0	0.000157383	0	0
OR5R1	219479	broad.mit.edu	37	11	56185028	56185028	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:56185028C>T	uc010rji.2	-	0	681	c.681G>A	c.(679-681)agG>agA	p.R227R	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TAGAGCGGATCCTTAGGATAG	0.438000														22			24		0	0	0.000586117	0	0
XPR1	9213	broad.mit.edu	37	1	180756930	180756930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:180756930G>A	uc001goi.3	+	2	355	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	XPR1_uc009wxm.2_Missense_Mutation_p.E55K|XPR1_uc009wxn.3_Missense_Mutation_p.E55K	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	55	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCCAAGTTTGAAGAGAAGTT	0.338000														43			50		0	0	0.000781405	0	0
MLF1IP	79682	broad.mit.edu	37	4	185616448	185616448	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:185616448C>T	uc003iwq.3	-	12	1321	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	MLF1IP_uc003iwp.3_Non-coding_Transcript	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	417					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CTTCTCATCCCTGGTCAAGGA	0.418000														105			174		0	0	0.000781405	0	0
DIP2B	57609	broad.mit.edu	37	12	51065067	51065067	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:51065067A>G	uc001rwv.3	+	4	682	c.526A>G	c.(526-528)Aac>Gac	p.N176D	DIP2B_uc001rwu.3_Missense_Mutation_p.N176D|DIP2B_uc009zls.2_Missense_Mutation_p.N58D	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	176	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTCCTGGATCAACCGTTCAAT	0.532000														23			36		0	0	0.000953801	0	0
GLRA1	2741	broad.mit.edu	37	5	151234673	151234673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:151234673C>T	uc003lut.3	-	5	912	c.625G>A	c.(625-627)Gga>Aga	p.G209R	GLRA1_uc003lur.3_Missense_Mutation_p.G209R|GLRA1_uc003lus.3_Missense_Mutation_p.G126R	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	209					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAGTTAGTCCATCTGCTACC	0.502000														12			41		0	0	0.000374591	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160271420	160271420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:160271420C>T	uc003iqg.4	+	19	3671	c.3361C>T	c.(3361-3363)Cca>Tca	p.P1121S		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1121	Ser-rich.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity	p.A1120V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCCTACTTCTCCACAGAGTTC	0.343000														35			65		0	0	0.000781405	0	0
CCR8	1237	broad.mit.edu	37	3	39374497	39374497	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:39374497G>A	uc010hhr.2	+	1	813	c.675G>A	c.(673-675)ctG>ctA	p.L225L	CCR8_uc003cjm.2_Silent_p.L142L|CCR8_uc021wwe.1_Silent_p.L225L	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	225					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TGCACCAGCTGAAGAGGTGTC	0.418000														8			9		0	0	0.000673444	0	0
TRIM65	201292	broad.mit.edu	37	17	73887084	73887084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:73887084G>A	uc002jpx.3	-	5	1366	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	444	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACACCCCTGGGAGGCGCTGG	0.677000														3			3		0	0	6.4e-05	0	0
C3	718	broad.mit.edu	37	19	6719409	6719409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:6719409G>A	uc002mfm.3	-	1	142	c.80C>T	c.(79-81)tCt>tTt	p.S27F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	27					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTGATGATAGAGTACCTGTC	0.617000														24			10		0	0	6.40141e-05	0	0
SCN5A	6331	broad.mit.edu	37	3	38622628	38622628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:38622628G>A	uc021wvo.1	-	15	3074	c.3022C>T	c.(3022-3024)Ccc>Tcc	p.P1008S	SCN5A_uc021wvk.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvl.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvm.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvn.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvp.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvq.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvr.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvs.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvt.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvu.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvv.1_Missense_Mutation_p.P1008S|SCN5A_uc021wvj.1_Missense_Mutation_p.P874S|SCN5A_uc021wvi.1_Missense_Mutation_p.P874S|SCN5A_uc021wvw.1_Missense_Mutation_p.P619S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1008					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGGGAGTAGGGGGTGGCAATG	0.692000														13			10		0	0	6.40141e-05	0	0
AOX1	316	broad.mit.edu	37	2	201464354	201464354	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:201464354C>T	uc002uvx.3	+	4	422	c.321C>T	c.(319-321)gcC>gcT	p.A107A		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	107					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGAGGATTGCCAAGTGTCATG	0.527000														5			41		0	0	0.000437636	0	0
KCNT2	343450	broad.mit.edu	37	1	196438157	196438157	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:196438157C>T	uc001gtd.1	-	5	486	c.426G>A	c.(424-426)ttG>ttA	p.L142L	KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Silent_p.L142L|KCNT2_uc001gtf.1_Silent_p.L142L|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.L142L|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	142						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAATTATTTCCAAGATGAAGG	0.318000														14			13		0	0	0.000422831	0	0
DNAH9	1770	broad.mit.edu	37	17	11523065	11523065	+	Silent	SNP	G	A	A	rs147288160		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:11523065G>A	uc002gne.3	+	5	1385	c.1317G>A	c.(1315-1317)ttG>ttA	p.L439L		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	439	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGTGCGATTGGATGGCTTCC	0.517000														38			42		0	0	0.000437636	0	0
ZNF778	197320	broad.mit.edu	37	16	89292028	89292028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:89292028G>A	uc021tms.1	+	5	733	c.394G>A	c.(394-396)Gag>Aag	p.E132K	ZNF778_uc010vpg.2_5'UTR|ZNF778_uc002fmv.3_Missense_Mutation_p.E104K|ZNF778_uc002fmw.2_Missense_Mutation_p.E62K	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGCATCAAATGAGACACAGAC	0.358000														19			29		0	0	0.000279167	0	0
SIL1	64374	broad.mit.edu	37	5	138287560	138287560	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:138287560G>A	uc003ldo.3	-	8	987	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	SIL1_uc003ldp.3_Nonsense_Mutation_p.Q261*|SIL1_uc003ldq.1_Nonsense_Mutation_p.Q54*	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	261					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCCTCCACCTGGACCTTGGGG	0.612000									Marinesco-Sjgren syndrome					17			46		0	0	0.000680045	0	0
COL25A1	84570	broad.mit.edu	37	4	109773436	109773436	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:109773436C>T	uc021xqo.1	-	25	1401	c.1345_splice	c.e25-1	p.G449_splice	COL25A1_uc003hze.1_Splice_Site_p.G449_splice|COL25A1_uc021xqp.1_Splice_Site_p.G449_splice|COL25A1_uc003hzg.3_Splice_Site_p.G449_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G207_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	449	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCAGGGGGACCCTAAATCAAG	0.358000														24			8		0	0	0.000442599	0	0
POLR3A	11128	broad.mit.edu	37	10	79784394	79784394	+	Silent	SNP	C	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:79784394C>A	uc001jzn.3	-	4	691	c.558G>T	c.(556-558)gtG>gtT	p.V186V		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	186					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CAATGGGATCCACCACTTTTT	0.383000														24			21		3.51602e-12	4.4896e-11	0.000132079	1	0
OR6C4	341418	broad.mit.edu	37	12	55945204	55945204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:55945204C>T	uc010spp.2	+	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S65F(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CGGAATTTCTCCTTCTTAGAA	0.428000														18			6		0	0	8.12818e-05	0	0
WDR48	57599	broad.mit.edu	37	3	39135452	39135452	+	Silent	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:39135452T>C	uc003cit.3	+	17	1843	c.1833T>C	c.(1831-1833)tcT>tcC	p.S611S	WDR48_uc011ayt.1_Silent_p.S602S|WDR48_uc011ayu.1_Silent_p.S529S|WDR48_uc011ayv.1_Silent_p.S336S|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	611					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATAATGAGTCTCAAACCACTA	0.368000														23			9		0	0	0.000274275	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053665	67053665	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:67053665C>T	uc003dmy.3	+	2	327	c.274C>T	c.(274-276)Cga>Tga	p.R92*	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	92	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAAAGAAGTTCGAATAGTTGG	0.378000														49			50		0	0	0.000781405	0	0
CHST5	23563	broad.mit.edu	37	16	75563490	75563490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:75563490G>A	uc002fej.1	-	4	1132	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	CHST5_uc002fei.3_Missense_Mutation_p.R265C|CHST5_uc021tlk.1_Missense_Mutation_p.R265C	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	265					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.S270I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CACACCTCGCGAATCAGGCGC	0.716000														37			37		0	0	0.000953801	0	0
OR4M1	441670	broad.mit.edu	37	14	20248867	20248867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:20248867C>T	uc010tku.2	+	0	386	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTGCCGACCCCTCCACTAT	0.512000														30			43		0	0	0.000781405	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377203	18377203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:18377203G>A	uc010ebn.2	-	2	1363	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S	KIAA1683_uc002nin.2_Missense_Mutation_p.P383S|KIAA1683_uc010xqe.1_Missense_Mutation_p.P337S	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	383	Thr-rich.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTGGGCCCCGGATACATCTGG	0.572000														42			53		0	0	0.000781405	0	0
DDX60	55601	broad.mit.edu	37	4	169201585	169201585	+	Silent	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:169201585A>G	uc003irp.3	-	13	2171	c.1879T>C	c.(1879-1881)Ttg>Ctg	p.L627L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	627							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)		CAGGATTTCAAAAAATCTTCC	0.378000														29			55		0	0	0.000781405	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35915573	35915573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:35915573G>A	uc001byx.3	-	14	2506	c.2248C>T	c.(2248-2250)Ctt>Ttt	p.L750F	KIAA0319L_uc001byw.3_Missense_Mutation_p.L192F|KIAA0319L_uc010ohv.1_Missense_Mutation_p.L392F	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	750	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAAGAAAAAGGATAGGGTGA	0.463000														20			29		0	0	0.000409698	0	0
SNRPB	6628	broad.mit.edu	37	20	2444485	2444485	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:2444485C>G	uc002wfz.1	-	3	491	c.328G>C	c.(328-330)Gct>Cct	p.A110P	SNRPB_uc002wga.1_Missense_Mutation_p.A110P|SNRPB_uc010zpv.2_Missense_Mutation_p.A31P|SNRPB_uc002wgb.3_Missense_Mutation_p.A110P|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	110					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTCTGCCAGCAGCCCTGCCG	0.607000														64			45		0	0	0.000374591	0	0
FAM135B	51059	broad.mit.edu	37	8	139155319	139155319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:139155319C>T	uc003yuy.3	-	15	3745	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N	FAM135B_uc003yux.3_Missense_Mutation_p.D1093N|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.D754N|FAM135B_uc003yvb.3_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1192								p.T1191T(1)		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)			AATAACCGATCCGTCATAGTA	0.458000										HNSCC(54;0.14)				18			59		0	0	0.000781405	0	0
NSMAF	8439	broad.mit.edu	37	8	59515917	59515917	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:59515917C>T	uc011lee.2	-	12	1051	c.990G>A	c.(988-990)gaG>gaA	p.E330E	NSMAF_uc003xtt.3_Silent_p.E299E	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	299	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCATGTAGCTCTCAGCAGTGT	0.557000														25			38		0	0	0.000270559	0	0
RERGL	79785	broad.mit.edu	37	12	18237580	18237580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:18237580G>A	uc001rdq.3	-	4	400	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	69	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ACTTGTGAGGGAGAATTTTGC	0.378000														67			15		0	0	0.000566183	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749371	79749371	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:79749371C>T	uc002bew.1	+	1	957	c.882C>T	c.(880-882)ccC>ccT	p.P294P	KIAA1024_uc010unk.1_Silent_p.P294P	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	294						integral to membrane		p.P294L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAAGGAACCCCACAAGCCAC	0.507000														61			50		0	0	0.000781405	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507471	74507471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:74507471G>A	uc001dfy.4	-	6	1336	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	382										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATTGGCTGAGGATATGCAGGA	0.348000														28			24		0	0	0.000878237	0	0
VSIG10	54621	broad.mit.edu	37	12	118517278	118517278	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:118517278G>A	uc001tws.3	-	3	1132	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	266	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						ACTTCCCCACGATTACACCTC	0.537000														20			36		0	0	0.000374591	0	0
PROX1	5629	broad.mit.edu	37	1	214209048	214209048	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:214209048C>T	uc001hkh.3	+	4	2357	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	695	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTTTCAATGCCATTATCGCAG	0.428000														41			29		0	0	0.000409698	0	0
FER1L6	654463	broad.mit.edu	37	8	124989728	124989729	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:124989728_124989729CC>TT	uc003yqw.3	+	9	1148_1149	c.942_943CC>TT	c.(940-945)ttccct>ttTTct	p.P315S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	315	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGAAATGTTCCCTCCCTTGTG	0.500000														49			80		0	0	6.4e-05	0	0
LCE3E	353145	broad.mit.edu	37	1	152538652	152538652	+	Silent	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:152538652T>C	uc021oyz.1	-	0	33	c.33A>G	c.(31-33)caA>caG	p.Q11Q	LCE3E_uc001faa.3_Silent_p.Q11Q	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	11					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGGTGGGGGTTGGCACTGCT	0.562000														62			46		0	0	0.000781405	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631515	76631515	+	RNA	SNP	G	A	A	rs61737189	by1000genomes	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:76631515G>A	uc011kgn.1	+	3		c.656G>A			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.									p.A7A(1)									TGTCCGCAGCGTCTGGATACA	0.617000														20			13		0	0	0.000566183	0	0
CHPF2	54480	broad.mit.edu	37	7	150934799	150934799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:150934799G>A	uc003wjr.1	+	3	2864	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	CHPF2_uc003wjq.1_Missense_Mutation_p.E443K|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	451						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCTGCTGTTGGAATGTGTGAC	0.647000														3			64		0	0	0.000781405	0	0
IL36A	27179	broad.mit.edu	37	2	113763661	113763661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:113763661C>T	uc010yxr.2	+	1	121	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	41					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCGTATGTCTCCAGGTGAGTA	0.542000														1			21		0	0	0.000175454	0	0
MUC16	94025	broad.mit.edu	37	19	9085008	9085008	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:9085008C>T	uc002mkp.3	-	0	7011	c.6807G>A	c.(6805-6807)aaG>aaA	p.K2269K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2269	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATGAGTTGTCTTTTCTGGGA	0.433000														8			10		0	0	0.000673444	0	0
FSTL5	56884	broad.mit.edu	37	4	162680614	162680614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:162680614C>T	uc003iqh.3	-	5	1112	c.676G>A	c.(676-678)Gat>Aat	p.D226N	FSTL5_uc003iqi.3_Missense_Mutation_p.D225N|FSTL5_uc010iqv.3_Missense_Mutation_p.D225N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	226	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCATTAAAATCATCATATTTC	0.338000														119			46		0	0	0.000781405	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120490	193120490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:193120490C>T	uc003ftd.3	-	29	3650	c.3542G>A	c.(3541-3543)gGa>gAa	p.G1181E	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1181					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTAAGACACTCCTCTGCCACA	0.463000														19			17		0	0	0.000958276	0	0
USH2A	7399	broad.mit.edu	37	1	216246251	216246251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:216246251C>T	uc001hku.1	-	28	6224	c.5837G>A	c.(5836-5838)cGa>cAa	p.R1946Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1946	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R1946Q(4)		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)		TGTACGTCCTCGACTCCAATC	0.363000										HNSCC(13;0.011)				28			12		0	0	0.000308642	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:108672495C>T	uc003dxj.2	-	0	183	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_uc003dxk.2_Missense_Mutation_p.E39K	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000														38			29		0	0	0.000409698	0	0
KDM4A	9682	broad.mit.edu	37	1	44128634	44128634	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:44128634A>G	uc001cjx.3	+	4	665	c.499A>G	c.(499-501)Acc>Gcc	p.T167A	KDM4A_uc010oki.2_Missense_Mutation_p.T167A	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	167	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAGTGGGATCACCATTGAGGG	0.493000														33			48		0	0	0.000781405	0	0
FAM71D	161142	broad.mit.edu	37	14	67671401	67671401	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:67671401C>T	uc001xja.2	+	4	797	c.507C>T	c.(505-507)gcC>gcT	p.A169A	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	169										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)		AATGGGTGGCCCTCATCTCCC	0.473000														21			15		0	0	0.000308642	0	0
MKKS	8195	broad.mit.edu	37	20	10393935	10393935	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:10393935G>A	uc002wnt.1	-	2	1115	c.228C>T	c.(226-228)atC>atT	p.I76I	MKKS_uc002wnu.1_Silent_p.I76I|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	76					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AGGCTGTCAGGATCTTTAAAA	0.443000														21			21		0	0	0.000295444	0	0
MECOM	2122	broad.mit.edu	37	3	168833417	168833417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:168833417C>T	uc011bpj.1	-	7	2646	c.2243G>A	c.(2242-2244)cGa>cAa	p.R748Q	MECOM_uc010hwk.1_Missense_Mutation_p.R583Q|MECOM_uc003ffj.3_Missense_Mutation_p.R625Q|MECOM_uc003ffi.3_Missense_Mutation_p.R560Q|MECOM_uc011bpi.1_Missense_Mutation_p.R561Q|MECOM_uc003ffn.3_Missense_Mutation_p.R560Q|MECOM_uc003ffk.2_Missense_Mutation_p.R560Q|MECOM_uc003ffl.2_Missense_Mutation_p.R720Q|MECOM_uc011bpk.1_Missense_Mutation_p.R560Q|MECOM_uc010hwn.2_Missense_Mutation_p.R748Q	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	70							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCATCCTTTCGCTTAGTGGT	0.517000														18			17		0	0	0.000958276	0	0
LIPE	3991	broad.mit.edu	37	19	42930619	42930619	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:42930619C>T	uc002otr.3	-	0	960	c.683G>A	c.(682-684)tGg>tAg	p.W228*	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	228					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ATCTGTGACCCACTCAGAAAG	0.493000														2			75		0	0	0.000781405	0	0
OR7G2	390882	broad.mit.edu	37	19	9213650	9213650	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:9213650C>T	uc010xkk.2	-	0	333	c.333G>A	c.(331-333)cgG>cgA	p.R111R		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						ACGTGATGCTCCGATTCTGAG	0.478000														41			39		0	0	0.000680045	0	0
PADI3	51702	broad.mit.edu	37	1	17603320	17603320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:17603320G>A	uc001bai.3	+	12	1544	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	502					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTCTTCCAGGAAAAGCAGAA	0.637000														6			17		0	0	0.00074312	0	0
NLRP14	338323	broad.mit.edu	37	11	7083677	7083677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:7083677G>A	uc001mfb.1	+	9	3241	c.2918G>A	c.(2917-2919)gGa>gAa	p.G973E		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	973					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAGGATGATGGAGTGAAAATT	0.418000														10			7		0	0	8.12818e-05	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74537937	74537937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:74537937G>A	uc001xpo.3	-	5	790	c.691C>T	c.(691-693)Cct>Tct	p.P231S	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.P218S|ALDH6A1_uc010asa.3_Missense_Mutation_p.P76S	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	231						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	p.P231T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GTTCCATCAGGGGCACCAGAA	0.458000														49			47		0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61868653	61868653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:61868653C>T	uc001jky.3	-	26	3446	c.3108G>A	c.(3106-3108)atG>atA	p.M1036I	ANK3_uc001jkw.3_Missense_Mutation_p.M170I|ANK3_uc009xpa.3_Missense_Mutation_p.M170I|ANK3_uc001jkx.3_Missense_Mutation_p.M214I|ANK3_uc010qih.2_Missense_Mutation_p.M1037I|ANK3_uc001jkz.4_Missense_Mutation_p.M1030I|ANK3_uc001jla.1_Missense_Mutation_p.M102I|ANK3_uc001jlb.1_Missense_Mutation_p.M554I	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1036	ZU5.			MVEGEGLA -> HGERRGIS (in Ref. 1; AAA64834).	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.P1035S(1)		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						CTCCTTCCACCATGGGGGGTG	0.507000														7			5		0	0	3.59834e-05	0	0
LAMC1	3915	broad.mit.edu	37	1	183072500	183072501	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:183072500_183072501CC>TT	uc001gpy.4	+	1	713_714	c.456_457CC>TT	c.(454-459)ttccac>ttTTac	p.H153Y	LAMC1_uc001gpx.3_Missense_Mutation_p.H153Y	NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	153	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCAAGTTCCACACCAGCCG	0.480000														151			104		0	0	6.4e-05	0	0
PDE9A	5152	broad.mit.edu	37	21	44171281	44171281	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:44171281C>T	uc002zbm.3	+	8	772	c.709C>T	c.(709-711)Cga>Tga	p.R237*	PDE9A_uc002zbn.3_Nonsense_Mutation_p.R110*|PDE9A_uc002zbo.3_Nonsense_Mutation_p.R184*|PDE9A_uc002zbp.3_Nonsense_Mutation_p.R30*|PDE9A_uc002zbq.3_Nonsense_Mutation_p.R135*|PDE9A_uc002zbs.3_Nonsense_Mutation_p.R30*|PDE9A_uc002zbr.3_Nonsense_Mutation_p.R30*|PDE9A_uc002zbt.3_Nonsense_Mutation_p.R109*|PDE9A_uc002zbu.3_Nonsense_Mutation_p.R103*|PDE9A_uc002zbv.3_Nonsense_Mutation_p.R77*|PDE9A_uc002zbw.3_Nonsense_Mutation_p.R20*|PDE9A_uc002zbx.3_Nonsense_Mutation_p.R177*|PDE9A_uc002zby.3_Nonsense_Mutation_p.R20*|PDE9A_uc002zbz.3_Nonsense_Mutation_p.R129*|PDE9A_uc002zca.3_Nonsense_Mutation_p.R196*|PDE9A_uc002zcb.3_Nonsense_Mutation_p.R211*|PDE9A_uc002zcc.3_Nonsense_Mutation_p.R136*|PDE9A_uc002zcd.3_Nonsense_Mutation_p.R151*|PDE9A_uc002zce.3_Nonsense_Mutation_p.R170*|PDE9A_uc002zcf.3_Nonsense_Mutation_p.R30*|PDE9A_uc002zcg.3_Nonsense_Mutation_p.R30*|PDE9A_uc010gpf.1_Nonsense_Mutation_p.R30*	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	237					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|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						GTTGACTCCTCGACGCGATGT	0.557000														137			97		0	0	0.000781405	0	0
OR10R2	343406	broad.mit.edu	37	1	158450621	158450621	+	Silent	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:158450621A>G	uc010pik.2	+	0	954	c.954A>G	c.(952-954)caA>caG	p.Q318Q	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGGATGTCCAACTTGCTATCA	0.348000														28			5		0	0	8.12818e-05	0	0
WDR49	151790	broad.mit.edu	37	3	167240235	167240235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:167240235G>A	uc003fev.1	-	11	1890	c.1586C>T	c.(1585-1587)cCt>cTt	p.P529L	WDR49_uc003feu.1_Missense_Mutation_p.P354L|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	529										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATCTCTTTTAGGAAGGAAAAG	0.303000														15			7		0	0	8.12818e-05	0	0
FAM188A	80013	broad.mit.edu	37	10	15879309	15879309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:15879309G>A	uc001iod.1	-	5	691	c.470C>T	c.(469-471)tCg>tTg	p.S157L	FAM188A_uc001ioe.1_5'UTR	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	157					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ACTTCTGAACGATCTTTTTCT	0.289000														16			12		0	0	6.40141e-05	0	0
PIWIL3	440822	broad.mit.edu	37	22	25131705	25131706	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:25131705_25131706GG>TT	uc003abd.1	-	12	2020_2021	c.1603_1604CC>AA	c.(1603-1605)ccc>AAc	p.P535N	PIWIL3_uc011ajx.1_Missense_Mutation_p.P426N|PIWIL3_uc010gut.1_Missense_Mutation_p.P535N|PIWIL3_uc011ajy.1_Missense_Mutation_p.P426N	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	535					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATGCCCATGGGGGCTGTGACA	0.386000														213			10		0	0	6.4e-05	0	0
IKBKB	3551	broad.mit.edu	37	8	42147757	42147757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:42147757C>T	uc003xow.2	+	3	470	c.284C>T	c.(283-285)gCc>gTc	p.A95V	IKBKB_uc003xov.3_Missense_Mutation_p.A95V|IKBKB_uc010lxh.2_Intron|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Intron|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.A93V|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.A36V	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	95	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CCCCTGCTGGCCATGGAGTAC	0.632000														10			11		0	0	6.40141e-05	0	0
C16orf78	123970	broad.mit.edu	37	16	49433070	49433070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:49433070C>T	uc002efr.3	+	4	722	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	227								p.R227W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGAGAACATTCGGACCTTGCT	0.453000														40			39		0	0	0.000319135	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900044	151900044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:151900044C>T	uc022chj.1	-	0	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.E253K|MAGEA12_uc022chi.1_Missense_Mutation_p.E253K|MAGEA12_uc004fgc.3_Missense_Mutation_p.E253K	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	253	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTAGTTTTCCTGCACCAAA	0.557000														2			73		0	0	0.000781405	0	0
SLC6A11	6538	broad.mit.edu	37	3	10975766	10975766	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:10975766T>A	uc003bvz.3	+	11	1523	c.1489T>A	c.(1489-1491)Tat>Aat	p.Y497N		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	497					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CAACCGGTTCTATGATAACAT	0.507000														46			35		0	0	0.000953801	0	0
TXNRD2	10587	broad.mit.edu	37	22	19898968	19898968	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:19898968G>A	uc021wlj.1	-	7	627	c.594C>T	c.(592-594)atC>atT	p.I198I	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Silent_p.I197I|TXNRD2_uc010grv.1_Silent_p.I198I|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqs.2_Silent_p.I166I	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	198					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGGCACCTTCGATCTGTCAAG	0.507000														23			21		0	0	0.000375601	0	0
FAM83B	222584	broad.mit.edu	37	6	54805927	54805927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:54805927G>A	uc003pck.3	+	4	2274	c.2158G>A	c.(2158-2160)Gat>Aat	p.D720N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	720										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTGGAGGAGGATGAGGAGGA	0.398000														21			26		0	0	0.000184323	0	0
BTBD16	118663	broad.mit.edu	37	10	124036318	124036318	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:124036318C>T	uc001lgc.1	+	2	282	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	BTBD16_uc001lgd.1_Silent_p.L10L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	11										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CAAAGCTCGGCTGGAACGCCG	0.473000														36			18		0	0	0.000229342	0	0
MBL2	4153	broad.mit.edu	37	10	54528095	54528095	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:54528095G>A	uc001jjt.3	-	3	614	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	183	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGATGCCCAGGAAGGCTTCCT	0.512000														28			15		0	0	0.000308642	0	0
SMYD1	150572	broad.mit.edu	37	2	88387408	88387408	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:88387408G>A	uc002ssr.3	+	2	427	c.342G>A	c.(340-342)gtG>gtA	p.V114V	SMYD1_uc002ssq.2_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.V114G(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGTGGCGGGTGGAGAGAGAAG	0.617000														1			4		0	0	0.00024832	0	0
ENPEP	2028	broad.mit.edu	37	4	111397748	111397748	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:111397748C>T	uc003iab.4	+	0	520	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	60					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCCTTCCCACCTGCCTTCTTC	0.632000														75			56		0	0	0.000781405	0	0
ZFHX3	463	broad.mit.edu	37	16	72831252	72831252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:72831252G>A	uc002fck.3	-	8	6002	c.5329C>T	c.(5329-5331)Ctt>Ttt	p.L1777F	ZFHX3_uc002fcl.3_Missense_Mutation_p.L863F	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1777					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGTGAGGAAGGAGGGTGGGG	0.572000														48			37		0	0	0.000270559	0	0
SYT13	57586	broad.mit.edu	37	11	45267998	45267998	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:45267998G>A	uc001myq.2	-	4	1038	c.912C>T	c.(910-912)ctC>ctT	p.L304L	SYT13_uc009yku.1_Silent_p.L160L	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	304	C2 2.					transport vesicle		p.L304L(2)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCACCACCAGGAGGCGGTTGG	0.577000														35			22		0	0	0.000720815	0	0
KCNB2	9312	broad.mit.edu	37	8	73849483	73849483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:73849483G>A	uc003xzb.3	+	2	2481	c.1893G>A	c.(1891-1893)atG>atA	p.M631I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	631					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)			ACTTGCAGATGAAGTTCCCAA	0.597000														125			43		0	0	0.000781405	0	0
ETV2	2116	broad.mit.edu	37	19	36133948	36133948	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:36133948G>A	uc002oas.2	+	3	758	c.319_splice	c.e3+1	p.E107_splice	ETV2_uc002oar.2_Splice_Site_p.E79_splice|ETV2_uc002oat.2_Splice_Site|ETV2_uc002oau.2_Intron	NM_014209	NP_055024	B9EIN1	B9EIN1_HUMAN	Homo sapiens ets variant 2 (ETV2), mRNA.	79							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGGGGCGGGTGAGTGTGGG	0.627000														0			5		0	0	8.12818e-05	0	0
AP3B2	8120	broad.mit.edu	37	15	83346471	83346471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:83346471G>A	uc010uoi.2	-	11	1507	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	AP3B2_uc010uoh.2_Missense_Mutation_p.R444C|AP3B2_uc010uoj.2_Missense_Mutation_p.R412C|AP3B2_uc010uog.2_Missense_Mutation_p.R80C	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	444					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGGTGTCACGGACTCGGCCG	0.547000														8			12		0	0	6.40141e-05	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182676	57182676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:57182676C>T	uc003hbk.2	+	7	3399	c.3008C>T	c.(3007-3009)cCg>cTg	p.P1003L	KIAA1211_uc010iha.2_Missense_Mutation_p.P996L|KIAA1211_uc011bzz.1_Missense_Mutation_p.P913L|KIAA1211_uc003hbm.1_Missense_Mutation_p.P889L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1003	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCAAGTGAGCCGTCCAAGGAG	0.657000														3			14		0	0	0.000422831	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342475	60342475	+	RNA	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:60342475G>A	uc010woz.2	-	13		c.1654C>T								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						AGCTCTGAAGGGGGTGCCCTG	0.612000														78			21		0	0	0.000147802	0	0
APOH	350	broad.mit.edu	37	17	64216794	64216794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:64216794C>T	uc002jfn.4	-	4	541	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	161	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GGAATTGTTTCCAGCTGATGG	0.413000														75			40		0	0	0.000781405	0	0
CA9	768	broad.mit.edu	37	9	35674098	35674098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:35674098C>T	uc003zxo.4	+	0	184	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	C9orf100_uc003zxl.3_Non-coding_Transcript|CA9_uc003zxn.1_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	48	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGATTCCCCCTTGGGAGG	0.632000														7			8		0	0	0.000274275	0	0
RPL29	6159	broad.mit.edu	37	3	52028085	52028086	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:52028085_52028086GG>AA	uc003dcs.3	-	3	253_254	c.159_160CC>TT	c.(157-162)ggccta>ggTTta	p.53_54GL>GL		NM_000992	NP_000983	P47914	RL29_HUMAN	Homo sapiens ribosomal protein L29 (RPL29), mRNA.	53					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|protein binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCTTCTTTAGGCCCTTTTTGT	0.535000														15			19		0	0	6.4e-05	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114283	117114283	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:117114283G>A	uc003pxj.1	-	5	1825	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	GPRC6A_uc003pxk.1_Silent_p.S426S|GPRC6A_uc003pxl.1_Silent_p.S530S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	601					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTCCCAGTAGGGAGAGAATCA	0.438000														0			6		0	0	0.000157383	0	0
POMT1	10585	broad.mit.edu	37	9	134390882	134390882	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:134390882C>T	uc004cav.3	+	12	1513	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	POMT1_uc004cax.3_Silent_p.S415S|POMT1_uc011mcj.2_Silent_p.S193S|POMT1_uc004cau.3_Silent_p.S415S|POMT1_uc004caw.3_Silent_p.S361S|POMT1_uc011mck.2_Silent_p.S298S|POMT1_uc011mcl.2_Silent_p.S263S|POMT1_uc011mcm.2_Silent_p.S385S	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	437	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ATAACATCTCCATGCCCGCCC	0.532000														31			46		0	0	0.000680045	0	0
GRM8	2918	broad.mit.edu	37	7	126173839	126173839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:126173839G>A	uc003vlr.2	-	7	1908	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.P533S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	533					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAGCAGCAAGGGACCCCTTTC	0.552000										HNSCC(24;0.065)				2			41		0	0	0.000319135	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635733	141635733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:141635733C>T	uc003vwv.1	-	4	423	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	CLEC5A_uc011krm.1_Missense_Mutation_p.E53K|CLEC5A_uc003vww.1_Missense_Mutation_p.E76K|CLEC5A_uc010lnq.1_Missense_Mutation_p.E53K|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	76					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TGATAAAATTCCCAGTCTTTG	0.398000														1			17		0	0	0.000566183	0	0
CPLX4	339302	broad.mit.edu	37	18	56963965	56963965	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:56963965T>G	uc002lhy.3	-	2	635	c.448A>C	c.(448-450)Aag>Cag	p.K150Q		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	150					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	p.I149I(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				GCTGTCTGCTTGATTTCAGTG	0.498000														13			5		0	0	0.000602214	0	0
ABCC3	8714	broad.mit.edu	37	17	48733370	48733370	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:48733370G>A	uc002isl.3	+	2	302	c.222_splice	c.e2+1	p.M74_splice	ABCC3_uc002isk.4_Splice_Site_p.M74_splice	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	74					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTCAAGATGGTCAGTGGCTC	0.473000														25			28		0	0	0.000491102	0	0
OR2L13	284521	broad.mit.edu	37	1	248262935	248262935	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:248262935C>T	uc001ids.3	+	2	595	c.258C>T	c.(256-258)tcC>tcT	p.S86S	OR2L13_uc021pmc.1_Silent_p.S86S	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACTTCCTGTCCGGCCAGAAAG	0.542000														62			68		0	0	0.000781405	0	0
ABCA13	154664	broad.mit.edu	37	7	48391836	48391836	+	Silent	SNP	G	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:48391836G>T	uc003toq.2	+	30	10464	c.10440G>T	c.(10438-10440)ctG>ctT	p.L3480L	ABCA13_uc010kys.1_Silent_p.L554L|ABCA13_uc003tos.1_Silent_p.L306L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3480					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGTCAAACTGCCACCCCATG	0.433000														39			67		1.52589e-26	1.96057e-25	0.000781405	1	0
KLHL25	64410	broad.mit.edu	37	15	86311557	86311557	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:86311557G>A	uc002bly.3	-	1	1688	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	KLHL25_uc021stw.1_Silent_p.F495F	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	495						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTCCCATGATGAAGATCTGGC	0.617000														67			44		0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	122002712	122002712	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:122002712C>T	uc003eew.4	+	6	2379	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	CASR_uc003eev.4_Silent_p.F637F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	637					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)	TTATCAAGTTCCGCAACACAC	0.562000														28			29		0	0	0.000147802	0	0
MUC17	140453	broad.mit.edu	37	7	100692154	100692154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:100692154G>A	uc003uxp.1	+	4	12617	c.12564G>A	c.(12562-12564)atG>atA	p.M4188I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4188	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCCCAAATGGAACTGACTG	0.512000														6			49		0	0	0.000781405	0	0
PAPD7	11044	broad.mit.edu	37	5	6739885	6739885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:6739885C>T	uc003jdx.1	+	3	307	c.178C>T	c.(178-180)Cct>Tct	p.P60S	PAPD7_uc011cmn.2_Missense_Mutation_p.P60S	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	60					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGCGTCCTCCTTTACAGCT	0.582000														43			21		0	0	0.000175454	0	0
NRG1	3084	broad.mit.edu	37	8	32617893	32617893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:32617893G>A	uc003xiv.2	+	10	1754	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	NRG1_uc022ats.1_Missense_Mutation_p.D363N|NRG1_uc011lbf.1_Missense_Mutation_p.D410N|NRG1_uc010lvo.2_Missense_Mutation_p.D410N|NRG1_uc003xiu.2_Missense_Mutation_p.D418N|NRG1_uc003xiw.2_Missense_Mutation_p.D410N|NRG1_uc003xit.2_Missense_Mutation_p.D413N|NRG1_uc010lvr.2_Missense_Mutation_p.D155N|NRG1_uc010lvs.2_Missense_Mutation_p.D155N|NRG1_uc010lvp.2_Missense_Mutation_p.D367N|NRG1_uc010lvq.2_Missense_Mutation_p.D343N|NRG1_uc011lbg.1_Missense_Mutation_p.D259N|NRG1_uc011lbh.1_Missense_Mutation_p.D256N|NRG1_uc003xja.2_Missense_Mutation_p.D224N	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	413					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGAAACCCCTGATTCCTACCG	0.542000														34			39		0	0	0.000191422	0	0
ITGAM	3684	broad.mit.edu	37	16	31309201	31309201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:31309201G>A	uc002ebr.3	+	13	1734	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	ITGAM_uc002ebq.3_Missense_Mutation_p.E545K|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Intron	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	545					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGCCCCAGGAGAGGAGGACAA	0.622000														33			31		0	0	0.000953801	0	0
SPAG16	79582	broad.mit.edu	37	2	214174822	214174822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:214174822G>A	uc002veq.3	+	3	411	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	SPAG16_uc010fuz.2_Intron|SPAG16_uc002ver.3_Missense_Mutation_p.E53K|SPAG16_uc010zjk.2_Intron|SPAG16_uc002veo.3_Missense_Mutation_p.E107K|SPAG16_uc002ves.1_Missense_Mutation_p.E76K	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	107					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGCAGTACCTGAAGTAATAGA	0.318000														0			7		0	0	0.000157383	0	0
TLR3	7098	broad.mit.edu	37	4	187004117	187004117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:187004117C>T	uc003iyq.3	+	3	1378	c.1277C>T	c.(1276-1278)gCt>gTt	p.A426V	TLR3_uc011ckz.2_Missense_Mutation_p.A149V|TLR3_uc003iyr.3_Missense_Mutation_p.A149V	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	426					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAGAGTGATGCTTTCTCTTGG	0.398000														29			46		0	0	0.000509022	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95599991	95599991	+	RNA	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:95599991G>A	uc004ass.2	+	8		c.2075G>A			ANKRD19P_uc004asr.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		CAGGGAGGAGGAATCGGCGGA	0.428000														8			16		0	0	0.000308642	0	0
SCFD2	152579	broad.mit.edu	37	4	53773709	53773709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:53773709G>A	uc003gzu.3	-	6	1891	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	SCFD2_uc010igm.3_Intron	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	586					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGCCTCTCGGGATGAAATAT	0.403000														26			25		0	0	0.000720815	0	0
B3GAT2	135152	broad.mit.edu	37	6	71571422	71571422	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:71571422C>T	uc003pfw.3	-	2	1652	c.996G>A	c.(994-996)agG>agA	p.R332R	SMAP1_uc003pfr.3_3'UTR|SMAP1_uc003pfs.3_3'UTR|SMAP1_uc010kao.3_3'UTR|SMAP1_uc010kap.3_3'UTR|B3GAT2_uc003pfv.3_Missense_Mutation_p.V306I			Q9NPZ5	B3GA2_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) (B3GAT2), mRNA.	0					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCTAGATTAACCTTCTCTGTC	0.507000														3			23		0	0	0.000586117	0	0
OVCH2	341277	broad.mit.edu	37	11	7712505	7712505	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:7712505T>G	uc010rbf.2	-	14	1634	c.1634A>C	c.(1633-1635)aAa>aCa	p.K545T		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTTACCTGCTTTAGGAATGAA	0.478000														9			8		0	0	0.000157383	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2272549	2272549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:2272549G>A	uc003gex.2	-	12	2887	c.2567C>T	c.(2566-2568)cCg>cTg	p.P856L	ZFYVE28_uc011bvk.2_Missense_Mutation_p.P786L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.P826L|ZFYVE28_uc003gew.2_Missense_Mutation_p.P742L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	856					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCGGGGCAGCGGTGCTGAGTG	0.662000														30			29		0	0	0.00058488	0	0
DPY19L4	286148	broad.mit.edu	37	8	95750646	95750647	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:95750646_95750647CC>AA	uc003ygx.2	+	3	426_427	c.302_303CC>AA	c.(301-303)tcc>tAA	p.S101*	DPY19L4_uc003ygy.3_Nonsense_Mutation_p.S38*	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	101						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTTATTACTCCTATTATAAAG	0.252000														755			16		0	0	6.4e-05	0	0
LSM4	25804	broad.mit.edu	37	19	18418351	18418351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:18418351G>A	uc002niq.3	-	4	514	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	LSM4_uc021uqn.1_Missense_Mutation_p.R101W	NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN	Homo sapiens LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM4), transcript variant 1, mRNA.	115					RNA splicing|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing	U6 snRNP|cytosol	RNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)	6						CCTCGGCCCCGGCCACCAAAC	0.672000														1			4		0	0	0.000602214	0	0
DENND5B	160518	broad.mit.edu	37	12	31600507	31600507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:31600507G>A	uc001rkh.1	-	7	2082	c.1931C>T	c.(1930-1932)tCt>tTt	p.S644F	DENND5B_uc001rki.1_Missense_Mutation_p.S609F|DENND5B_uc001rkj.3_Missense_Mutation_p.S631F	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	609						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGATATATAGATGTCCGCAA	0.388000														51			23		0	0	0.000586117	0	0
DSC1	1823	broad.mit.edu	37	18	28722027	28722027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:28722027C>T	uc002kwn.3	-	8	1457	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	DSC1_uc002kwm.3_Missense_Mutation_p.E399K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	399	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTCCATTTTCATTTCCTTGT	0.353000														36			22		0	0	0.00047179	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011105	105011105	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:105011105G>A	uc004elz.1	+	10	2268	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	504	TIR.				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						AAATCAAAGTGATTTTGATTG	0.413000														1			23		0	0	0.00047179	0	0
AKAP6	9472	broad.mit.edu	37	14	33293340	33293340	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:33293340G>A	uc001wrq.3	+	12	6491	c.6321G>A	c.(6319-6321)ggG>ggA	p.G2107G		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2107					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGAGAAAAGGGGACTTTTATT	0.448000														13			17		0	0	0.000422831	0	0
SLC5A12	159963	broad.mit.edu	37	11	26742962	26742962	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:26742962G>A	uc001mra.2	-	0	613	c.300C>T	c.(298-300)ctC>ctT	p.L100L	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Silent_p.L100L	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	100					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGAACACAGGGAGAAAGAGCT	0.428000														16			14		0	0	0.000422831	0	0
ADSL	158	broad.mit.edu	37	22	40761016	40761016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:40761016C>T	uc003ayp.4	+	11	1383	c.1324C>T	c.(1324-1326)Cat>Tat	p.H442Y	ADSL_uc003ays.4_Intron	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	442					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CCAGTTGGATCATTTACTGGA	0.517000														112			27		0	0	0.000339439	0	0
SLC5A5	6528	broad.mit.edu	37	19	17994489	17994490	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:17994489_17994490GG>AA	uc002nhr.4	+	11	1590	c.1243_splice	c.e11-1	p.G415_splice		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	415					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TACTCTCCCAGGGCTCCTTCAC	0.644000														25			35		0	0	6.4e-05	0	0
LILRA4	23547	broad.mit.edu	37	19	54849894	54849894	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:54849894T>C	uc002qfj.3	-	2	185	c.128A>G	c.(127-129)aAc>aGc	p.N43S	LILRA4_uc002qfi.3_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	43	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGTCACGGGGTTATGCCAGGT	0.542000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		2			45		0	0	0.000781405	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602855	37602855	+	Silent	SNP	C	T	T	rs141312847		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:37602855C>T	uc002yvg.3	+	13	1852	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	DOPEY2_uc011aeb.2_Silent_p.I591I	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	591					Golgi to endosome transport|endoplasmic reticulum organization|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						ACAGTGGGATCGGGCTCAGTG	0.522000														54			48		0	0	0.000781405	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554530	20554530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:20554530C>T	uc002dhj.4	-	11	1546	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	ACSM2B_uc002dhk.4_Missense_Mutation_p.D446N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D446N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	446					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATTCCCCGGTCTCCAAGGAGC	0.493000														113			24		0	0	0.000184323	0	0
PIGZ	80235	broad.mit.edu	37	3	196674066	196674066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:196674066G>A	uc003fxh.3	-	2	1849	c.1702C>T	c.(1702-1704)Ctc>Ttc	p.L568F		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	568					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGAAGACTGAGGTGGTCCCTC	0.542000														47			40		0	0	0.000680045	0	0
PTPRB	5787	broad.mit.edu	37	12	70946681	70946681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:70946681G>A	uc001swb.4	-	18	4639	c.4609C>T	c.(4609-4611)Cct>Tct	p.P1537S	PTPRB_uc010sto.2_Missense_Mutation_p.P1447S|PTPRB_uc010stp.2_Missense_Mutation_p.P1447S|PTPRB_uc001swc.4_Missense_Mutation_p.P1755S|PTPRB_uc001swa.4_Missense_Mutation_p.P1667S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1537	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGCTGTTAGGATTTTCGGCA	0.468000														20			27		0	0	0.000147802	0	0
TPSD1	23430	broad.mit.edu	37	16	1306606	1306606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:1306606C>T	uc002clb.1	+	1	181	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	TPSD1_uc010brm.1_5'UTR	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CCTGAGAGTCCGCGGCCCATA	0.692000														44			37		0	0	0.000319135	0	0
MMP2	4313	broad.mit.edu	37	16	55517983	55517983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:55517983C>T	uc002ehz.4	+	2	747	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	MMP2_uc010vhd.2_Missense_Mutation_p.R70C|MMP2_uc010ccc.3_Missense_Mutation_p.R96C	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	146	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.A145V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGCCTTTGCTCGTGCCTTCCA	0.522000														52			33		0	0	0.000692331	0	0
RUNX1	861	broad.mit.edu	37	21	36206830	36206830	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:36206830G>A	uc002yuh.3	-	3	2179	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	RUNX1_uc010gmu.3_Silent_p.L228L|RUNX1_uc010gmv.3_Silent_p.L228L|RUNX1_uc002yuj.4_Silent_p.L96L|RUNX1_uc002yuk.4_Silent_p.L228L|RUNX1_uc002yul.1_5'UTR|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Silent_p.L228L|RUNX1_uc002yuo.1_Silent_p.L201L	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	Homo sapiens runt-related transcription factor 1 (RUNX1), transcript variant 2, mRNA.	201	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|calcium ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R201Q(16)|p.R201*(9)|p.P200S(1)|p.R201G(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AGCTGCTCCAGTTCACTGAGC	0.627000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""									65			53		0	0	0.000781405	0	0
RAB6B	51560	broad.mit.edu	37	3	133553457	133553457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:133553457G>A	uc003epy.3	-	6	905	c.524C>T	c.(523-525)cCc>cTc	p.P175L	RAB6B_uc011blu.1_Missense_Mutation_p.P162L	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA.	175					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic membrane-bounded vesicle	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						CTCCATTCCGGGTAGAGCCGA	0.483000														52			31		0	0	0.000491102	0	0
BSN	8927	broad.mit.edu	37	3	49692023	49692024	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:49692023_49692024CC>TT	uc003cxe.4	+	4	5148_5149	c.5034_5035CC>TT	c.(5032-5037)atcctc>atTTtc	p.L1679F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1679					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCCATCATCCTCACTGACCA	0.614000														20			21		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21260127	21260127	+	Splice_Site	SNP	C	T	T	rs143959032	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:21260127C>T	uc002red.3	-	6	666	c.538_splice	c.e6-1	p.D180_splice		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	180	Vitellogenin.				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)	TACACGGTATCCTATGGAGGA	0.498000														17			123		0	0	0.000781405	0	0
ZNF852	285346	broad.mit.edu	37	3	44541560	44541560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:44541560G>A	uc011azx.2	-	3	870	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	ZNF445_uc011azw.1_Intron|ZNF852_uc011azy.2_Missense_Mutation_p.H203Y			B6EU87	B6EU87_HUMAN	RecName: Full=Putative zinc finger protein 852;	237					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						TCCCCATTATGGAGTCTCTGG	0.463000														12			6		0	0	3.59834e-05	0	0
TMEM109	79073	broad.mit.edu	37	11	60687340	60687340	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:60687340C>T	uc001nqg.3	+	1	553	c.175C>T	c.(175-177)Cga>Tga	p.R59*		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	59						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CCAGATAGGTCGATCTGTGCG	0.547000														43			51		0	0	0.000781405	0	0
CD200R1	131450	broad.mit.edu	37	3	112648073	112648073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:112648073C>T	uc003dzj.1	-	3	717	c.484G>A	c.(484-486)Ggg>Agg	p.G162R	CD200R1_uc003dzk.1_Missense_Mutation_p.G139R|CD200R1_uc011bhx.1_Missense_Mutation_p.G117R|CD200R1_uc003dzl.1_Missense_Mutation_p.G162R|CD200R1_uc003dzm.1_Missense_Mutation_p.G139R	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	139	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGAAATTCCCATCAGGTGTT	0.443000														32			30		0	0	0.000491102	0	0
TTN	7273	broad.mit.edu	37	2	179593492	179593492	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:179593492G>A	uc021vsy.1	-	62	15654	c.15429C>T	c.(15427-15429)atC>atT	p.I5143I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I1804I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6070	Ig-like 32.						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)			CTTTCTCTACGATTTGAGCTG	0.383000														3			16		0	0	0.000132079	0	0
ZNF208	7757	broad.mit.edu	37	19	22157023	22157023	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:22157023G>A	uc021urr.1	-	3	962	c.813C>T	c.(811-813)atC>atT	p.I271I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				GTTTAGTAAGGATTGCAGATT	0.358000														11			7		0	0	8.12818e-05	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87162442	87162442	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:87162442C>T	uc003ydp.1	+	5	810	c.741C>T	c.(739-741)ctC>ctT	p.L247L		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	247					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TCGGCAAACTCTATCCTGAGG	0.488000														19			45		0	0	0.000781405	0	0
BSN	8927	broad.mit.edu	37	3	49688293	49688293	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:49688293G>A	uc003cxe.4	+	3	1881	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	589	3 X 7 AA tandem repeats of K-A-S-P-[LQ]- [APS]-[KST].				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGCCCCCAGGCCAAGCCCC	0.657000														39			48		0	0	0.000781405	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68116961	68116962	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:68116961_68116962GG>TT	uc003xxo.2	-	34	5302_5303	c.4912_4913CC>AA	c.(4912-4914)cca>AAa	p.P1638K	ARFGEF1_uc003xxl.1_Missense_Mutation_p.P1092K|ARFGEF1_uc003xxm.2_Missense_Mutation_p.P41K|ARFGEF1_uc003xxn.2_Intron|ARFGEF1_uc003xxp.1_5'Flank	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1638					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTGTGGCTGGGAAGAAGACA	0.416000														142			8		0	0	6.4e-05	0	0
PNPLA6	10908	broad.mit.edu	37	19	7606272	7606272	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:7606272C>T	uc010xjq.2	+	9	1224	c.984C>T	c.(982-984)ttC>ttT	p.F328F	PNPLA6_uc002mgq.2_Silent_p.F280F|PNPLA6_uc010xjp.2_Silent_p.F280F|PNPLA6_uc002mgr.2_Silent_p.F280F|PNPLA6_uc002mgs.3_Silent_p.F319F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	319					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGTCACCTTCCTGGCACTGC	0.662000														15			12		0	0	0.00010058	0	0
OR4M1	441670	broad.mit.edu	37	14	20248864	20248864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:20248864G>A	uc010tku.2	+	0	383	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTATCTGCCGACCCCTCCAC	0.512000														44			27		0	0	0.000147802	0	0
PCDHB9	56127	broad.mit.edu	37	5	140569244	140569244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:140569244G>A	uc003liw.1	+	1	2350	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	785					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAATAGAGGAAAATTCTAC	0.428000														63			23		0	0	0.00047179	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438448	204438448	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:204438448G>A	uc001haw.3	-	2	962	c.483C>T	c.(481-483)ccC>ccT	p.P161P	PIK3C2B_uc010pqv.2_Silent_p.P161P|PIK3C2B_uc001hax.1_Silent_p.P161P|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	161	Interaction with GRB2.|Pro-rich.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TAGAAGCTCGGGGAGGCAGAG	0.557000														42			70		0	0	0.000781405	0	0
ERLEC1	27248	broad.mit.edu	37	2	54014422	54014423	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:54014422_54014423GG>AA	uc002rxl.3	+	0	355_356	c.75_76GG>AA	c.(73-78)ctggag>ctAAag	p.E26K	GPR75-ASB3_uc021vhl.1_5'Flank|GPR75-ASB3_uc002rxg.2_5'Flank|GPR75-ASB3_uc002rxh.2_5'Flank|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_5'Flank|ERLEC1_uc002rxm.3_Missense_Mutation_p.E26K|ERLEC1_uc002rxn.3_Missense_Mutation_p.E26K	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	26					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GCGGCCTCCTGGAGGCGTCCGG	0.683000														3			18		0	0	6.4e-05	0	0
CACNA1E	777	broad.mit.edu	37	1	181745289	181745290	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:181745289_181745290GG>TT	uc009wxt.3	+	37	5387_5388	c.5192_5193GG>TT	c.(5191-5193)cgg>cTT	p.R1731L	CACNA1E_uc001gow.3_Missense_Mutation_p.R1731L|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1712L|CACNA1E_uc001gox.1_Missense_Mutation_p.R957L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1731					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R1731W(1)		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						TACCTGACTCGGGACTCCTCCA	0.584000														210			8		0	0	6.4e-05	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201497	81201497	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:81201497G>A	uc002bfw.1	+	12	1907	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q	KIAA1199_uc010unn.1_Silent_p.Q549Q	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	549										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATATGGGACAGCAGCTGGTGG	0.557000														25			30		0	0	0.000409698	0	0
BCL11B	64919	broad.mit.edu	37	14	99642133	99642133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:99642133C>T	uc001yga.3	-	3	1307	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	BCL11B_uc001ygb.3_Missense_Mutation_p.R276Q	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	347						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCATGACTCGGTCGAAGGC	0.726000			T	TLX3	T-ALL									7			11		0	0	0.000151284	0	0
ZFAND4	93550	broad.mit.edu	37	10	46121451	46121451	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:46121451T>G	uc001jcp.4	-	6	2062	c.1820A>C	c.(1819-1821)gAa>gCa	p.E607A	ZFAND4_uc001jcl.4_Missense_Mutation_p.E127A|ZFAND4_uc001jcm.4_Missense_Mutation_p.E607A|ZFAND4_uc009xmu.3_Missense_Mutation_p.E533A|ZFAND4_uc001jcn.4_Missense_Mutation_p.E533A|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	607							zinc ion binding										AAAGTTTTCTTCCTGAAAATG	0.443000														29			23		0	0	0.00047179	0	0
ZNF274	10782	broad.mit.edu	37	19	58718355	58718355	+	Silent	SNP	C	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:58718355C>A	uc002qrq.1	+	4	984	c.525C>A	c.(523-525)ccC>ccA	p.P175P	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Non-coding_Transcript|ZNF274_uc002qrr.1_Silent_p.P143P|ZNF274_uc002qrs.1_Silent_p.P70P|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	175	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TGACAGGTCCCCGGGAGCCCT	0.632000														1			7		5.18039e-06	6.57407e-05	0.000157383	1	0
SCAND3	114821	broad.mit.edu	37	6	28543645	28543645	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:28543645G>A	uc003nlo.3	-	2	1455	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	279					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGTACAAGGATAACATCAA	0.378000														86			56		0	0	0.000781405	0	0
LRIF1	55791	broad.mit.edu	37	1	111493993	111493993	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:111493993G>A	uc001eaa.3	-	1	1769	c.1513C>T	c.(1513-1515)Cag>Tag	p.Q505*	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTATGCTCTGGAGGACACTT	0.393000														68			35		0	0	0.000953801	0	0
TDGF1	6997	broad.mit.edu	37	3	46622733	46622733	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:46622733A>G	uc003cpv.3	+	5	944	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	LRRC2_uc003cpu.4_5'Flank|TDGF1_uc021wxd.1_Missense_Mutation_p.Y171C	NM_003212	NP_001167607	P13385	TDGF1_HUMAN	Homo sapiens teratocarcinoma-derived growth factor 1 (TDGF1), transcript variant 1, mRNA.	187					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ATACAAAGCTACTATTAATCG	0.413000														63			48		0	0	0.000781405	0	0
CCDC105	126402	broad.mit.edu	37	19	15132169	15132169	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:15132169C>T	uc002nae.2	+	3	978	c.879C>T	c.(877-879)tgC>tgT	p.C293C		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	293					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TTGCAGCGTGCGCCTTGGCGC	0.617000														19			9		0	0	6.40141e-05	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419074	46419074	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:46419074T>C	uc001ncv.2	-	19	4146	c.3832A>G	c.(3832-3834)Aac>Gac	p.N1278D	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.N1246D|AMBRA1_uc001ncu.1_Missense_Mutation_p.N1185D|AMBRA1_uc010rgu.1_Missense_Mutation_p.N1275D|AMBRA1_uc001ncw.2_Missense_Mutation_p.N1156D|AMBRA1_uc001ncx.2_Missense_Mutation_p.N1215D	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1275					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGTGGTTGTTATTGGTCAAC	0.617000														34			26		0	0	0.00047179	0	0
OR8G2	26492	broad.mit.edu	37	11	124095664	124095664	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:124095664C>T	uc010saf.2	+	0	267	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	89						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATTCCACTATCATTACCCCCA	0.438000														2			44		0	0	0.000781405	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40822654	40822654	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:40822654G>A	uc002iau.2	-	9	1958	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Silent_p.H494H	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	497	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAGAGGTCCGTGAAGACGCA	0.637000														32			18		0	0	0.000132079	0	0
GDF5	8200	broad.mit.edu	37	20	34025487	34025487	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:34025487G>A	uc010gfc.1	-	0	463	c.222C>T	c.(220-222)gcC>gcT	p.A74A	GDF5_uc002xck.1_Silent_p.A74A	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	74					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTTTGCCCTGGCATTGGCAT	0.657000														13			16		0	0	0.000422831	0	0
PREX2	80243	broad.mit.edu	37	8	69000017	69000017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:69000017C>T	uc003xxv.1	+	18	2113	c.2086C>T	c.(2086-2088)Cct>Tct	p.P696S	PREX2_uc003xxu.1_Missense_Mutation_p.P696S|PREX2_uc011lez.1_Missense_Mutation_p.P631S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	696	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGGATTTGGCCCTTCTGTTGT	0.458000														34			63		0	0	0.000781405	0	0
GPR115	221393	broad.mit.edu	37	6	47686167	47686167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:47686167C>T	uc003oyz.1	+	9	2248	c.2248C>T	c.(2248-2250)Cgt>Tgt	p.R750C	GPR115_uc003oza.1_Missense_Mutation_p.R693C|GPR115_uc003ozb.1_Missense_Mutation_p.R693C	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	693					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATTAATGAATCGTCAAGGATG	0.348000														112			225		0	0	0.000781405	0	0
PREX2	80243	broad.mit.edu	37	8	69028124	69028124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:69028124G>A	uc003xxv.1	+	25	3310	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1095					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGATGAACAGGAAGATTCTGG	0.393000														119			30		0	0	0.000814825	0	0
SLC12A4	6560	broad.mit.edu	37	16	67981622	67981622	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:67981622C>T	uc010vkj.1	-	13	1963	c.1923G>A	c.(1921-1923)ctG>ctA	p.L641L	SLC12A4_uc010ceu.2_Silent_p.L633L|SLC12A4_uc010vkh.1_Silent_p.L608L|SLC12A4_uc002euz.2_Silent_p.L639L|SLC12A4_uc010vki.1_Silent_p.L639L|SLC12A4_uc002eva.2_Silent_p.L639L|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	639					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATGGCCACCAGGGCATAGT	0.617000														4			4		0	0	0.00024832	0	0
CSK	1445	broad.mit.edu	37	15	75091219	75091219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:75091219C>T	uc010bkb.1	+	4	365	c.182C>T	c.(181-183)cCa>cTa	p.P61L	CSK_uc010bka.3_Nonsense_Mutation_p.Q164*|CSK_uc002ays.2_Missense_Mutation_p.P61L|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	61	Interaction with PTPN8 (By similarity).|SH3.				T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GGCATCATCCCAGCCAACTAC	0.632000														22			20		0	0	0.000586117	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580950	40580950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:40580950G>A	uc010xvh.2	-	5	1550	c.1402C>T	c.(1402-1404)Cat>Tat	p.H468Y	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.H467Y|ZNF780A_uc002omz.3_Missense_Mutation_p.H467Y	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCAGTATGAATTCGAGAA	0.413000														4			37		0	0	0.000814825	0	0
NKD2	85409	broad.mit.edu	37	5	1032326	1032326	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:1032326G>A	uc003jbt.1	+	4	207	c.202_splice	c.e4+1	p.V68_splice	NKD2_uc010itf.1_Splice_Site_p.V68_splice	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	68	Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GTCCCCTACAGGGTGAGTGCA	0.617000														44			18		0	0	0.000566183	0	0
EFCAB6	64800	broad.mit.edu	37	22	43986064	43986064	+	Silent	SNP	G	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:43986064G>T	uc003bdy.2	-	23	3236	c.2922C>A	c.(2920-2922)acC>acA	p.T974T	EFCAB6_uc003bdz.2_Silent_p.T822T|EFCAB6_uc010gzi.2_Silent_p.T822T|EFCAB6_uc010gzj.1_Silent_p.T200T	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	974	EF-hand 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GATCAGTTTTGGTGAATGCTT	0.423000														78			6		0.000157383	0.00198501	0.000157383	1	0
FADS3	3995	broad.mit.edu	37	11	61643441	61643441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:61643441G>A	uc001nsm.3	-	10	1321	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	390					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCATCCTGGGGAAGAGGCTG	0.657000														67			53		0	0	0.000781405	0	0
MIR506	574511	broad.mit.edu	37	X	146312323	146312323	+	RNA	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:146312323G>A	uc022cfu.1	-	0		c.39C>T								Homo sapiens microRNA 506 (MIR506), microRNA.																		ACACCTTCCTGAATAAGGCAC	0.423000														2			20		0	0	0.000295444	0	0
ZBP1	81030	broad.mit.edu	37	20	56190048	56190049	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:56190048_56190049CC>AA	uc002xyo.3	-	3	677_678	c.396_397GG>TT	c.(394-399)ctggga>ctTTga	p.G133*	ZBP1_uc010gjm.3_Nonsense_Mutation_p.G133*|ZBP1_uc002xyp.3_Nonsense_Mutation_p.G58*|ZBP1_uc010zzn.2_Nonsense_Mutation_p.G133*	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	133						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GTCCTCATTCCCAGTGCTTGGG	0.535000														296			10		0	0	6.4e-05	0	0
BACH1	571	broad.mit.edu	37	21	30715024	30715024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:30715024G>A	uc002ynk.3	+	4	2324	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	BACH1_uc002ynj.3_Missense_Mutation_p.R694Q|BACH1_uc002ynl.2_Intron	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	694						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A693T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GGCTACGCGCGAGGGCAGGAG	0.577000														19			33		0	0	0.000491102	0	0
RNF214	257160	broad.mit.edu	37	11	117109672	117109672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:117109672C>T	uc001pqt.3	+	2	508	c.463C>T	c.(463-465)Cca>Tca	p.P155S	RNF214_uc001pqu.3_Missense_Mutation_p.P155S|RNF214_uc010rxf.2_Intron	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	155							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AGAGAAATCCCCACAAACCTC	0.522000														1			30		0	0	0.000339439	0	0
KIAA0528	9847	broad.mit.edu	37	12	22678583	22678583	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:22678583G>A	uc010sit.2	-	4	634	c.406C>T	c.(406-408)Cga>Tga	p.R136*	KIAA0528_uc010sir.2_5'UTR|KIAA0528_uc010sis.2_Nonsense_Mutation_p.R136*|KIAA0528_uc001rfq.3_Nonsense_Mutation_p.R136*|KIAA0528_uc010siu.2_Nonsense_Mutation_p.R136*|KIAA0528_uc001rfr.3_Nonsense_Mutation_p.R136*|KIAA0528_uc009ziy.1_Nonsense_Mutation_p.R136*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	136							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCCTAAATCGATTTAAATCA	0.299000														134			70		0	0	0.000781405	0	0
KCNH2	3757	broad.mit.edu	37	7	150648102	150648102	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:150648102G>A	uc003wic.3	-	7	2453	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	KCNH2_uc003wib.3_Silent_p.I344I|KCNH2_uc011kux.2_Silent_p.I588I|KCNH2_uc003wid.3_Silent_p.I344I|KCNH2_uc003wie.3_Silent_p.I684I	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	684					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTGGAAGCGGATGAACTCCC	0.622000														1			49		0	0	0.000781405	0	0
OR11H12	440153	broad.mit.edu	37	14	19378043	19378043	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:19378043C>T	uc010tkp.2	+	0	450	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTAATATCATGACTGGGC	0.458000														27			16		0	0	0.000958276	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633483	70633483	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:70633483G>A	uc001xly.3	-	1	2411	c.1657C>T	c.(1657-1659)Ctg>Ttg	p.L553L	SLC8A3_uc001xlw.3_Silent_p.L553L|SLC8A3_uc001xlx.3_Silent_p.L553L|SLC8A3_uc001xlz.3_Silent_p.L553L|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	553	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GATGTCCGCAGAACCTTGACC	0.493000														17			10		0	0	0.000673444	0	0
LARP1B	55132	broad.mit.edu	37	4	129127653	129127653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:129127653C>T	uc003iga.3	+	17	2511	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	LARP1B_uc003igc.3_Nonsense_Mutation_p.Q213*|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Intron|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_Intron	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	794							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AGAAATTTTTCAGGATTTCCA	0.313000														127			52		0	0	0.000781405	0	0
OR56A4	120793	broad.mit.edu	37	11	6023564	6023564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:6023564G>A	uc010qzv.2	-	0	815	c.815C>T	c.(814-816)tCc>tTc	p.S272F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAGAATAGGAGATAACAAT	0.468000														16			17		0	0	0.00074312	0	0
EMILIN3	90187	broad.mit.edu	37	20	39992396	39992396	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:39992396G>A	uc002xjy.1	-	2	620	c.396C>T	c.(394-396)caC>caT	p.H132H		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	132						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GGTCCGTGAGGTGCTCAGGGC	0.622000														55			34		0	0	0.000270559	0	0
ZPLD1	131368	broad.mit.edu	37	3	102195856	102195856	+	Splice_Site	SNP	A	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:102195856A>C	uc003dvt.1	+	10	1191	c.1091_splice	c.e10-1	p.D364_splice	ZPLD1_uc003dvs.1_Splice_Site_p.D348_splice|ZPLD1_uc011bhg.1_Splice_Site_p.D348_splice	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	348						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTCCCCTCAGATGAGACTCCA	0.303000														29			31		0	0	0.000319135	0	0
IMPA2	3613	broad.mit.edu	37	18	12009942	12009942	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:12009942G>A	uc002kqp.2	+	2	533	c.291G>A	c.(289-291)acG>acA	p.T97T	IMPA2_uc010dlb.2_Silent_p.T81T|IMPA2_uc021uhq.1_5'UTR	NM_014214	NP_055029	O14732	IMPA2_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA.	97					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	p.T97M(1)|p.P96Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	ACAGCCCGACGTGGATCATCG	0.572000														77			36		0	0	0.000191422	0	0
CUL9	23113	broad.mit.edu	37	6	43153716	43153716	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:43153716C>T	uc003ouk.3	+	3	849	c.774C>T	c.(772-774)tcC>tcT	p.S258S	CUL9_uc003ouj.1_Silent_p.S258S|CUL9_uc003oul.3_Silent_p.S258S|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	258					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCTTTTCTCCTTGGTGAAGC	0.532000														52			68		0	0	0.000781405	0	0
FOLR3	2352	broad.mit.edu	37	11	71850013	71850013	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:71850013C>T	uc001ory.1	+	2	353	c.303C>T	c.(301-303)gtC>gtT	p.V101V	FOLR3_uc001orx.1_Missense_Mutation_p.P59S			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	79					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.V101L(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CCAGTGCAGTCCCTGGAAGAA	0.567000														15			11		0	0	0.000673444	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18764168	18764168	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:18764168C>T	uc010exr.3	-	5	1105	c.993G>A	c.(991-993)gtG>gtA	p.V331V	NT5C1B-RDH14_uc002rcy.3_Silent_p.V389V|NT5C1B-RDH14_uc010yju.2_Silent_p.V329V|NT5C1B-RDH14_uc002rcz.3_Silent_p.V389V|NT5C1B-RDH14_uc010yjw.2_Silent_p.V372V|NT5C1B-RDH14_uc010yjv.2_Silent_p.V406V|NT5C1B-RDH14_uc010exs.3_Silent_p.V391V|NT5C1B-RDH14_uc002rda.3_Silent_p.V329V	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	389					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GCCGCACTCCCACTTGGGCAT	0.418000														10			39		0	0	0.000781405	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366122	7366123	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7366122_7366123GG>AA	uc002ghc.4	-	3	2428_2429	c.2178_2179CC>TT	c.(2176-2181)caccga>caTTga	p.R727*	ZBTB4_uc002ghd.4_Nonsense_Mutation_p.R727*	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TCCCCGCATCGGTGCCTCCGCT	0.703000														26			29		0	0	6.4e-05	0	0
PTK7	5754	broad.mit.edu	37	6	43109726	43109726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:43109726C>T	uc011dve.1	+	11	1892	c.1850C>T	c.(1849-1851)gCc>gTc	p.A617V	PTK7_uc003oub.1_Missense_Mutation_p.A609V|PTK7_uc003ouc.1_Missense_Mutation_p.A609V|PTK7_uc003oud.1_Missense_Mutation_p.A569V|PTK7_uc003oue.1_Missense_Mutation_p.A479V|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	609	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGCCACACAGCCCTACTGCAG	0.602000														28			45		0	0	0.000781405	0	0
NTRK1	4914	broad.mit.edu	37	1	156843593	156843593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:156843593C>T	uc001fqh.1	+	7	1075	c.1019C>T	c.(1018-1020)aCc>aTc	p.T340I	NTRK1_uc001fqf.1_Missense_Mutation_p.T310I|NTRK1_uc009wsi.1_Missense_Mutation_p.T45I|NTRK1_uc001fqi.1_Missense_Mutation_p.T340I|NTRK1_uc009wsk.1_Missense_Mutation_p.T340I	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	340	Ig-like C2-type 2.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	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)	GCCAATGAGACCGTGCGGCAC	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				10			11		0	0	0.000151284	0	0
TCF25	22980	broad.mit.edu	37	16	89977544	89977544	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:89977544C>T	uc002fpb.2	+	17	2011	c.1929C>T	c.(1927-1929)aaC>aaT	p.N643N	TCF25_uc002fpc.2_Nonsense_Mutation_p.Q448*|BC160930_uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	643					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGGCCTGAACAGGCTGATGC	0.657000														28			28		0	0	0.000147802	0	0
MANBA	4126	broad.mit.edu	37	4	103647758	103647759	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:103647758_103647759GG>TT	uc003hwg.3	-	1	359_360	c.259_260CC>AA	c.(259-261)ccc>AAc	p.P87N	MANBA_uc011ces.2_Missense_Mutation_p.P87N	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	87					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AATTTCAAAGGGGATTTTAAAT	0.302000														161			9		0	0	6.4e-05	0	0
OR56A4	120793	broad.mit.edu	37	11	6023602	6023602	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:6023602C>T	uc010qzv.2	-	0	777	c.777G>A	c.(775-777)tgG>tgA	p.W259*		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAACAGAGTCCAGCCTGCCA	0.443000														16			15		0	0	0.000422831	0	0
CCDC60	160777	broad.mit.edu	37	12	119942879	119942879	+	Silent	SNP	G	A	A	rs117667301	by1000genomes	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:119942879G>A	uc001txe.3	+	6	1119	c.654G>A	c.(652-654)aaG>aaA	p.K218K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	218										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTTAGACCAAGAAATTCAAAA	0.527000														11			17		0	0	0.00074312	0	0
CYLC2	1539	broad.mit.edu	37	9	105767487	105767487	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:105767487G>C	uc004bbs.2	+	4	644	c.574G>C	c.(574-576)Gat>Cat	p.D192H		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	192	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				taacaaaaaagataaaaagga	0.358000														20			9		0	0	0.000442599	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32833469	32833469	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:32833469G>C	uc002kyl.3	-	4	1886	c.1430C>G	c.(1429-1431)aCa>aGa	p.T477R	ZNF397_uc002kyj.3_Intron|ZNF397_uc010dmq.3_Intron|ZNF397_uc010dmr.3_Intron|ZSCAN30_uc002kym.3_Missense_Mutation_p.T477R	NM_001166012	NP_001159484	Q86W11	ZSC30_HUMAN	Homo sapiens zinc finger and SCAN domain containing 30 (ZSCAN30), mRNA.	477					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						ATGCCTAAATGTTTTTCTACA	0.428000														19			10		0	0	6.40141e-05	0	0
ANK2	287	broad.mit.edu	37	4	114161656	114161656	+	Silent	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:114161656T>C	uc003ibe.4	+	7	809	c.709T>C	c.(709-711)Ttg>Ctg	p.L237L	ANK2_uc003ibd.4_Silent_p.L216L|ANK2_uc003ibf.4_Silent_p.L237L|ANK2_uc003ibc.2_Silent_p.L213L|ANK2_uc011cgb.1_Silent_p.L252L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	237					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTTACCCCTTTGCACATAGC	0.438000														69			24		0	0	0.000375601	0	0
CCDC59	29080	broad.mit.edu	37	12	82752008	82752008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:82752008G>A	uc001szp.4	-	0	192	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	C12orf26_uc001szq.3_5'Flank|CCDC59_uc021rbm.1_Intron	NM_014167	NP_054886	Q9P031	TAP26_HUMAN	Homo sapiens coiled-coil domain containing 59 (CCDC59), transcript variant 1, mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						ATACCCTCGCGAACGCTCCCC	0.507000														27			10		0	0	0.00010058	0	0
GJB6	10804	broad.mit.edu	37	13	20797560	20797560	+	Silent	SNP	G	A	A	rs151317854	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr13:20797560G>A	uc001und.4	-	2	447	c.60C>T	c.(58-60)atC>atT	p.I20I	GJB6_uc001umz.4_Silent_p.I20I|GJB6_uc001unb.4_Silent_p.I20I|GJB6_uc001unc.4_Silent_p.I20I|GJB6_uc001una.4_Silent_p.I20I|GJB6_uc021rhb.1_Silent_p.I20I	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	20					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		ACACCTTCCCGATGCTGGTGG	0.527000														53			29		0	0	0.00058488	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871101	51871101	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:51871101C>T	uc002xwo.3	+	1	1991	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	TSHZ2_uc021wex.1_Silent_p.Y365Y	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	368					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GAGCCAGCTACACCTGGCAGT	0.507000														102			37		0	0	0.000228196	0	0
TAP2	6891	broad.mit.edu	37	6	32781529	32781529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:32781529C>T	uc011dqf.1	-	14	2668	c.2546G>A	c.(2545-2547)gGa>gAa	p.G849E	TAP2_uc003oca.3_Missense_Mutation_p.G242E	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GATGACGATTCCCACCAGAAG	0.517000														5			3		0	0	6.4e-05	0	0
OR6F1	343169	broad.mit.edu	37	1	247875758	247875758	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:247875758C>T	uc001idj.1	-	0	300	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAAAGTACATCTGCAAAAGAC	0.488000														47			23		0	0	0.000586117	0	0
ALOX5	240	broad.mit.edu	37	10	45869841	45869841	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:45869841G>A	uc001jce.3	+	0	213	c.114G>A	c.(112-114)ctG>ctA	p.L38L	ALOX5_uc009xmt.3_Silent_p.L38L|ALOX5_uc010qfg.2_Silent_p.L38L|ALOX5_uc021ppr.1_Silent_p.L38L	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	38	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	AGCACCTGCTGGACAAGCCCT	0.697000														2			4		0	0	0.000602214	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512731	70512731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:70512731C>T	uc011caq.2	-	1	748	c.632G>A	c.(631-633)aGa>aAa	p.R211K	UGT2A1_uc010ihu.3_Missense_Mutation_p.R211K|UGT2A1_uc003hem.4_Missense_Mutation_p.R211K|UGT2A1_uc010iht.3_Missense_Mutation_p.R211K	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	211					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.R211R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GATGAAATTTCTTATTCTGTC	0.388000														11			20		0	0	0.000295444	0	0
MKL2	57496	broad.mit.edu	37	16	14354990	14354990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:14354990C>T	uc010uza.2	+	16	3144	c.2989C>T	c.(2989-2991)Cct>Tct	p.P997S	MKL2_uc002dcg.3_Missense_Mutation_p.P947S|MKL2_uc002dcj.3_Missense_Mutation_p.P242S	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	986					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAATGAAATTCCTCCACTACA	0.468000														24			16		0	0	0.00074312	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64625228	64625228	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:64625228G>A	uc003jtp.3	-	8	2014	c.1200C>T	c.(1198-1200)acC>acT	p.T400T	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.T21T	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	400	Peptidase M12B.				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)		CATGTGCAATGGTAAAAGCTG	0.418000														6			11		0	0	0.00010058	0	0
SVIL	6840	broad.mit.edu	37	10	29776190	29776190	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:29776190C>G	uc001iut.1	-	23	5140	c.4387G>C	c.(4387-4389)Gct>Cct	p.A1463P	LOC387647_uc001iuq.1_Non-coding_Transcript|SVIL_uc010qdw.1_Missense_Mutation_p.A377P|SVIL_uc001iuu.1_Missense_Mutation_p.A1037P|SVIL_uc009xlc.2_Missense_Mutation_p.A255P	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1463	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGCGCCGAAGCTCGAGGTTCC	0.562000														8			3		0	0	6.4e-05	0	0
CHRDL1	91851	broad.mit.edu	37	X	109964648	109964648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:109964648G>A	uc004eou.4	-	4	761	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	CHRDL1_uc004eov.3_Missense_Mutation_p.R132W|CHRDL1_uc004eow.3_Missense_Mutation_p.R137W|CHRDL1_uc010nps.3_Missense_Mutation_p.R137W|CHRDL1_uc011mss.2_Intron	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	131	VWFC 2.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.R137Q(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTGGGTTGCCGATTCTGAAAG	0.483000														4			129		0	0	0.000781405	0	0
ACSM1	116285	broad.mit.edu	37	16	20634825	20634825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:20634825C>T	uc002dhm.1	-	12	1785	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.E573K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	573					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGACCAGTCTCCTTTTTCCGA	0.493000														48			34		0	0	0.000509022	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491949	20491949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:20491949G>A	uc010bwe.3	+	11	1575	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	ACSM2A_uc010vax.1_Missense_Mutation_p.D367N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D446N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D446N|ACSM2A_uc010vay.2_Missense_Mutation_p.D367N|ACSM2A_uc002dhh.4_Missense_Mutation_p.D76N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	446					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTCCTTGGAGACCGGGGAAT	0.493000														21			23		0	0	0.000279167	0	0
CKAP5	9793	broad.mit.edu	37	11	46797835	46797835	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:46797835G>A	uc001ndi.2	-	23	3087	c.2961C>T	c.(2959-2961)ctC>ctT	p.L987L	CKAP5_uc009ylg.1_Silent_p.L873L|CKAP5_uc001ndj.2_Silent_p.L987L	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	987					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTTCCTTTTTGAGCTCTTCAG	0.443000														27			30		0	0	0.000339439	0	0
DAGLA	747	broad.mit.edu	37	11	61505223	61505223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:61505223C>T	uc001nsa.3	+	14	1695	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	527					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.V526I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGACCTCGTCCCCAGGTGAGT	0.622000														27			30		0	0	0.000279167	0	0
HPCAL4	51440	broad.mit.edu	37	1	40150167	40150167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:40150167C>T	uc001cdr.3	-	1	229	c.109G>A	c.(109-111)Gac>Aac	p.D37N	HPCAL4_uc010oix.2_Missense_Mutation_p.D37N	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	37	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGGGGCAGTCCTTCAGGAAG	0.612000														14			15		0	0	0.000566183	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142499823	142499823	+	RNA	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:142499823C>T	uc003wbe.4	+	3		c.493C>T			TCRBV3S1_uc022anx.1_Non-coding_Transcript|TCRBV3S1_uc003wbi.4_Non-coding_Transcript|TCRBV3S1_uc022any.1_Non-coding_Transcript|TCRBV3S1_uc003wbm.4_Non-coding_Transcript|TCRBV3S1_uc003wbn.4_Non-coding_Transcript|TCRBV3S1_uc010los.3_Non-coding_Transcript					Human TCR Cbeta1 chain cDNA.																		CTGCCACCATCCTCTATGAGA	0.572000														5			55		0	0	0.000781405	0	0
ABCC3	8714	broad.mit.edu	37	17	48734505	48734505	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:48734505C>T	uc002isl.3	+	3	527	c.447C>T	c.(445-447)atC>atT	p.I149I	ABCC3_uc002isk.4_Silent_p.I149I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	149					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCTGCGCCATCGTCCCATTCC	0.582000														46			49		0	0	0.000781405	0	0
POLR2B	5431	broad.mit.edu	37	4	57871556	57871556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:57871556C>T	uc003hcl.1	+	7	1088	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	POLR2B_uc011cae.1_Missense_Mutation_p.P342S|POLR2B_uc011caf.1_Missense_Mutation_p.P274S	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	349					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGAAATGCTCCCTCATGTTGG	0.338000														146			69		0	0	0.000781405	0	0
ZNF317	57693	broad.mit.edu	37	19	9271318	9271319	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:9271318_9271319CC>TT	uc002mku.3	+	6	1302_1303	c.997_998CC>TT	c.(997-999)ccc>TTc	p.P333F	ZNF317_uc002mkv.3_Missense_Mutation_p.P192F|ZNF317_uc002mkw.3_Missense_Mutation_p.P301F|ZNF317_uc002mkx.3_Missense_Mutation_p.P248F|ZNF317_uc002mky.3_Missense_Mutation_p.P216F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CGGAGAGAGGCCCTACGAGTGT	0.604000														31			10		0	0	6.4e-05	0	0
DUSP15	128853	broad.mit.edu	37	20	30436629	30436629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:30436629C>T	uc002wwu.1	-	8	783	c.706G>A	c.(706-708)Gag>Aag	p.E236K				Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	236						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGCTGCTCCTTGGGGTGC	0.607000														15			20		0	0	0.000586117	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896194	43896194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:43896194C>T	uc010skx.2	-	3	628	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	210						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)		AAACTGGTTTCCTTTATTTGA	0.308000														87			134		0	0	0.000781405	0	0
FCRL3	115352	broad.mit.edu	37	1	157667094	157667094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:157667094G>A	uc001fqz.4	-	5	972	c.680C>T	c.(679-681)tCc>tTc	p.S227F	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.S227F|FCRL3_uc001frc.1_Missense_Mutation_p.S227F	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	227	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTGAAGAGGGAGAATTGCAG	0.587000														43			38		0	0	0.000270559	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754765	94754765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:94754765G>A	uc001yct.3	-	2	1316	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	SERPINA10_uc001ycu.4_Missense_Mutation_p.R284C	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	284					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R284C(2)		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)		ACATGACAACGAAAATTCTTG	0.507000														24			22		0	0	0.000375601	0	0
CEP104	9731	broad.mit.edu	37	1	3755581	3755581	+	Missense_Mutation	SNP	G	A	A	rs139901107		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:3755581G>A	uc001aky.2	-	7	1197	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.R280C	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	280						centriole	binding	p.R280C(2)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ACCTCGGCACGATACTGCTCC	0.587000														64			83		0	0	0.000781405	0	0
KCNH5	27133	broad.mit.edu	37	14	63417088	63417088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:63417088C>T	uc001xfx.3	-	6	1183	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	KCNH5_uc001xfy.3_Missense_Mutation_p.E378K|KCNH5_uc001xfz.1_Missense_Mutation_p.E320K|KCNH5_uc001xga.3_Missense_Mutation_p.E320K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	378					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTAGTGACTTCATCAATGACC	0.522000														8			10		0	0	6.40141e-05	0	0
TACC3	10460	broad.mit.edu	37	4	1730378	1730378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:1730378C>T	uc003gdo.3	+	3	1404	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	TACC3_uc010ibz.3_Missense_Mutation_p.P417S|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	417						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAACTTCATCCCGTTCGGAGG	0.622000														28			37		0	0	0.000589545	0	0
OR14C36	127066	broad.mit.edu	37	1	248512210	248512210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:248512210C>T	uc010pzl.2	+	0	134	c.134C>T	c.(133-135)aCc>aTc	p.T45I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTCATTGTGACCGTCACCACC	0.438000														32			31		0	0	0.000491102	0	0
DNAH17	8632	broad.mit.edu	37	17	76568964	76568964	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:76568964G>A	uc010dhp.2	-	2	483	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	DNAH17_uc002jvv.2_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTTTAACAGAGAAGAGAGG	0.547000														18			16		0	0	0.000566183	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707705	75707705	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:75707705C>T	uc010oqz.1	-	7	696	c.630G>A	c.(628-630)gcG>gcA	p.A210A	SLC44A5_uc001dgt.2_Silent_p.A171A|SLC44A5_uc001dgs.2_Silent_p.A129A|SLC44A5_uc001dgr.2_Silent_p.A129A|SLC44A5_uc001dgu.3_Silent_p.A171A|SLC44A5_uc010ora.2_Silent_p.A165A|SLC44A5_uc010orb.2_Silent_p.A41A	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	171						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGGAAAAATCGCTGTTGGAC	0.353000														2			7		0	0	0.000157383	0	0
KCTD13	253980	broad.mit.edu	37	16	29923186	29923186	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:29923186G>A	uc002duv.3	-	3	698	c.507C>T	c.(505-507)ccC>ccT	p.P169P	BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc021tge.1_Non-coding_Transcript	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 13 (KCTD13), mRNA.	169					DNA replication|cell migration|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GCTTCACCACGGGCTGGCGGG	0.677000														23			18		0	0	0.000175454	0	0
RBP3	5949	broad.mit.edu	37	10	48387843	48387843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:48387843G>A	uc001jez.3	-	0	3149	c.3035C>T	c.(3034-3036)cCt>cTt	p.P1012L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1012	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACAATTCCAGGAATGCGGTC	0.607000														28			25		0	0	0.000147802	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33391341	33391342	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:33391341_33391342CG>AT	uc011dri.2	+	1	350_351	c.155_156CG>AT	c.(154-156)tcg>tAT	p.S52Y	SYNGAP1_uc003oeo.1_Missense_Mutation_p.S37Y|SYNGAP1_uc010juy.3_Missense_Mutation_p.S37Y	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	52					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCATCATCTCGGGGAACCAGC	0.550000														193			8		0	0	6.4e-05	0	0
MUT	4594	broad.mit.edu	37	6	49416553	49416554	+	Silent	DNP	GG	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:49416553_49416554GG>TT	uc003ozg.4	-	6	1684_1685	c.1419_1420CC>AA	c.(1417-1422)gcccga>gcAAga	p.473_474AR>AR		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	473					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.R474R(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTTGTCTTCGGGCAGCACATT	0.342000														98			7		0	0	6.4e-05	0	0
FRAS1	80144	broad.mit.edu	37	4	79236762	79236762	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:79236762T>G	uc003hlb.2	+	15	2133	c.1693T>G	c.(1693-1695)Tgt>Ggt	p.C565G	FRAS1_uc003hkw.3_Missense_Mutation_p.C565G|FRAS1_uc003hky.1_Missense_Mutation_p.C269G|FRAS1_uc003hkz.3_Missense_Mutation_p.C269G|FRAS1_uc003hla.1_Missense_Mutation_p.C76G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	565					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGACCAATCCTGTGACAGTTG	0.478000														96			16		0	0	0.000566183	0	0
CUX2	23316	broad.mit.edu	37	12	111772438	111772438	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:111772438C>T	uc001tsa.2	+	18	3274	c.3120C>T	c.(3118-3120)atC>atT	p.I1040I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1040						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGGAGATCGTGGCCATGT	0.617000														12			5		0	0	3.59834e-05	0	0
C15orf2	23742	broad.mit.edu	37	15	24922455	24922455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:24922455G>A	uc001ywo.3	+	0	1915	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	481	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TAATGAGAAAGGAGGCTCTTA	0.498000														86			82		0	0	0.000781405	0	0
PCSK5	5125	broad.mit.edu	37	9	78968949	78968949	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:78968949G>A	uc004akc.2	+	36	5525	c.4987_splice	c.e36-1	p.G1663_splice		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	830					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCTTAACAGGGAGAGAAGTT	0.483000														5			5		0	0	3.59834e-05	0	0
TGIF1	7050	broad.mit.edu	37	18	3457419	3457419	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:3457419G>A	uc002klz.3	+	2	1074	c.687G>A	c.(685-687)aaG>aaA	p.K229K	TGIF1_uc002klu.3_Silent_p.K80K|TGIF1_uc002klv.3_Silent_p.K114K|TGIF1_uc002klx.3_Silent_p.K80K|TGIF1_uc002klw.3_Silent_p.K100K|TGIF1_uc002kly.3_Silent_p.K100K|TGIF1_uc002kma.3_Silent_p.K80K|TGIF1_uc002kmb.3_Silent_p.K80K|TGIF1_uc002kmc.3_Silent_p.K80K	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	229					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TGCTGAGAAAGGATGGCAAAG	0.488000														22			12		0	0	0.000151284	0	0
FEZ1	9638	broad.mit.edu	37	11	125359592	125359592	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:125359592G>A	uc001qbx.3	-	1	317	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	FEZ1_uc010sbc.2_Nonsense_Mutation_p.Q28*|FEZ1_uc001qby.2_Nonsense_Mutation_p.Q28*|FEZ1_uc021qrv.1_Nonsense_Mutation_p.Q28*	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA.	28					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TAGAAACACTGGGGCTTCTCC	0.542000														9			48		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13721244	13721244	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:13721244G>A	uc003jfd.2	-	70	12186	c.12144C>T	c.(12142-12144)ctC>ctT	p.L4048L	DNAH5_uc003jfc.2_Silent_p.L216L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4048	AAA 6 (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)					CCATAGACAGGAGACAGATGA	0.498000									Kartagener syndrome					115			27		0	0	0.000339439	0	0
CDCA3	83461	broad.mit.edu	37	12	6956008	6956008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:6956008C>T	uc001qre.2	-	4	732	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	GNB3_uc001qrc.3_Silent_p.D279D|GNB3_uc001qrd.3_Silent_p.D323D|GNB3_uc009zfe.3_Silent_p.D322D|CDCA3_uc001qrf.1_Non-coding_Transcript	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.	0					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TCACAGCTGACGGGATGGCTG	0.562000														13			4		0	0	0.000602214	0	0
F9	2158	broad.mit.edu	37	X	138630641	138630641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:138630641G>A	uc004fas.1	+	4	540	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	F9_uc004fat.1_Missense_Mutation_p.E133K	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	171	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GAAGTCCTGTGAACCAGCAGG	0.358000														2			29		0	0	0.000227799	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146121	31146121	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:31146121G>A	uc003tca.2	+	15	1519	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	ADCYAP1R1_uc003tcg.3_Silent_p.E438E|ADCYAP1R1_uc003tce.2_Silent_p.E437E|ADCYAP1R1_uc003tcb.2_Silent_p.E389E|ADCYAP1R1_uc003tcc.2_Silent_p.E438E	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	410					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACAAGCGGAGATCAAGCGAA	0.612000														23			26		0	0	0.000720815	0	0
HPS5	11234	broad.mit.edu	37	11	18303523	18303523	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:18303523G>A	uc001mod.1	-	21	3581	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I	HPS5_uc001moe.1_Silent_p.I987I|HPS5_uc001mof.1_Silent_p.I987I	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	1101						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAATCCTCAGGATATCGCAGG	0.493000									Hermansky-Pudlak syndrome					75			49		0	0	0.000781405	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284389	47284389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:47284389C>T	uc001cqn.4	+	11	1526	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	CYP4B1_uc001cqm.4_Missense_Mutation_p.P480L|CYP4B1_uc009vym.3_Missense_Mutation_p.P466L|CYP4B1_uc010omk.2_Missense_Mutation_p.P317L	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	480					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCTCTGGACCCCTCACGGCTG	0.577000														49			26		0	0	0.000227799	0	0
HBZ	3050	broad.mit.edu	37	16	202988	202988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:202988C>T	uc002cft.1	+	0	135	c.80C>T	c.(79-81)aCc>aTc	p.T27I		NM_005332	NP_005323	P02008	HBAZ_HUMAN	Homo sapiens hemoglobin, zeta (HBZ), mRNA.	27						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ACCATCGGCACCGAGACTCTG	0.642000														11			9		0	0	0.000274275	0	0
OR10P1	121130	broad.mit.edu	37	12	56031197	56031197	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:56031197C>T	uc010spq.2	+	0	522	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCACCCGATCATCCCGCACT	0.577000														31			8		0	0	0.000274275	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175912	45175912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:45175912C>T	uc002ozo.4	+	1	580	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	CEACAM19_uc002ozp.4_Missense_Mutation_p.L34F	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	34						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCAGGCAGCTCTCTACATCCA	0.562000														6			65		0	0	0.000781405	0	0
CCDC78	124093	broad.mit.edu	37	16	775578	775578	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:775578G>A	uc002cjg.3	-	3	376	c.270C>T	c.(268-270)atC>atT	p.I90I	CCDC78_uc002cjh.3_5'UTR|CCDC78_uc002cji.3_Silent_p.I164I|CCDC78_uc002cjj.3_Intron|CCDC78_uc010uuo.1_Silent_p.I90I|CCDC78_uc002cjk.2_Silent_p.I90I|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	Homo sapiens coiled-coil domain containing 78 (CCDC78), mRNA.	90										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGCCGAAGGATCTGTGGGA	0.672000														15			16		0	0	0.000566183	0	0
FAM3D	131177	broad.mit.edu	37	3	58641329	58641329	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:58641329C>T	uc003dkq.3	-	2	260	c.-37_splice	c.e2-1			NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.						negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CAGCTTCCACCTATGGAGAGA	0.483000														15			14		0	0	0.000219431	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414250	22414250	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:22414250G>A	uc001yuf.3	+	0	789	c.549G>A	c.(547-549)agG>agA	p.R183R	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GCCCCTTCAGGGCTTTCCCAG	0.453000														30			19		0	0	0.000229342	0	0
OBSCN	84033	broad.mit.edu	37	1	228529214	228529214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:228529214C>T	uc009xez.1	+	73	17977	c.17933C>T	c.(17932-17934)tCg>tTg	p.S5978L	OBSCN_uc001hsn.3_Missense_Mutation_p.S5978L|OBSCN_uc001hsr.1_Missense_Mutation_p.S607L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5978	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGGAGGACTCGGTGCGCAAG	0.642000														21			17		0	0	0.00074312	0	0
OLFML2B	25903	broad.mit.edu	37	1	161989878	161989878	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:161989878T>C	uc010pkq.2	-	1	693	c.269A>G	c.(268-270)cAg>cGg	p.Q90R	OLFML2B_uc001gbu.3_Missense_Mutation_p.Q90R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	90										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATTGATCCTCTGGCAGGCATC	0.587000														44			48		0	0	0.000781405	0	0
CNGA1	1259	broad.mit.edu	37	4	47939314	47939314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:47939314C>T	uc003gxu.3	-	9	1545	c.1404G>A	c.(1402-1404)atG>atA	p.M468I	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.M399I	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	399					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGTTGGAAATCATAGAACCTA	0.388000														43			39		0	0	0.000953801	0	0
NOS1	4842	broad.mit.edu	37	12	117768500	117768500	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:117768500G>A	uc001twn.2	-	1	1086	c.375C>T	c.(373-375)ccC>ccT	p.P125P	NOS1_uc001twm.2_Silent_p.P125P	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	125	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGGACCCAGGGGCTGTGTCA	0.652000														15			31		0	0	0.000339439	0	0
ABHD15	116236	broad.mit.edu	37	17	27889940	27889940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:27889940G>A	uc002hed.2	-	1	1104	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	349						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CACAGGCACGGCTGCCTCATC	0.582000														47			37		0	0	0.000270559	0	0
PAK7	57144	broad.mit.edu	37	20	9561263	9561263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:9561263C>T	uc002wnl.2	-	4	1064	c.519G>A	c.(517-519)atG>atA	p.M173I	PAK7_uc002wnk.2_Missense_Mutation_p.M173I|PAK7_uc002wnj.2_Missense_Mutation_p.M173I|PAK7_uc010gby.1_Missense_Mutation_p.M173I	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	173	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTTCATTTTCATTACGTGCC	0.463000														44			39		0	0	0.000509022	0	0
CPSF2	53981	broad.mit.edu	37	14	92609402	92609402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:92609402C>T	uc001yah.2	+	8	1172	c.904C>T	c.(904-906)Ccg>Tcg	p.P302S		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa (CPSF2), mRNA.	302					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|hydrolase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGAAATAATCCGTTTCAGTT	0.393000														45			40		0	0	0.000191422	0	0
HAL	3034	broad.mit.edu	37	12	96379724	96379724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:96379724G>A	uc001tem.1	-	13	1465	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	HAL_uc010sux.1_Missense_Mutation_p.R390C|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.R182C	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	390					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.R390C(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCCTGGACGCGATCACAGAAC	0.423000														8			17		0	0	0.000175454	0	0
F8	2157	broad.mit.edu	37	X	154227796	154227797	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:154227796_154227797CC>TT	uc004fmt.3	-	1	393_394	c.222_223GG>AA	c.(220-225)acggat>acAAat	p.D75N	F8_uc011mzx.1_Missense_Mutation_p.D40N	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	75	F5/8 type A 1.|Plastocyanin-like 1.		D -> E (in HEMA; moderate).|D -> V (in dbSNP:rs1800288).|D -> Y (in HEMA; moderate-severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAAGGTGATCCGTGAATTCTA	0.386000														0			68		0	0	6.4e-05	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129477	68129477	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:68129477C>T	uc002jiq.3	+	2	1485	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*	KCNJ16_uc002jin.3_Nonsense_Mutation_p.Q417*|KCNJ16_uc002jio.3_Nonsense_Mutation_p.Q417*|KCNJ16_uc002jip.3_Nonsense_Mutation_p.Q417*|KCNJ16_uc021uch.1_Nonsense_Mutation_p.Q417*	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	417					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGTAGAATCCCAAATGTAGTC	0.398000														16			10		0	0	0.00010058	0	0
FOXJ1	2302	broad.mit.edu	37	17	74134192	74134192	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:74134192G>C	uc002jqx.3	-	2	863	c.508C>G	c.(508-510)Cgc>Ggc	p.R170G	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	170					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGTTGTGGCGGATTGAATTC	0.602000														35			22		0	0	0.000878237	0	0
GPS2	2874	broad.mit.edu	37	17	7222489	7222489	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7222489G>A	uc002gga.1	-	21	3571	c.3564C>T	c.(3562-3564)tcC>tcT	p.S1188S	GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.S1186S	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CCAGGACAAGGGAAGATGTCC	0.602000														35			22		0	0	0.00047179	0	0
NAT10	55226	broad.mit.edu	37	11	34162704	34162704	+	Silent	SNP	C	T	T	rs142246385		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:34162704C>T	uc001mvk.3	+	24	2905	c.2661C>T	c.(2659-2661)ccC>ccT	p.P887P	NAT10_uc010ren.2_Silent_p.P815P	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	887	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTGAGCTGCCCTCGGGCCAGT	0.532000														76			69		0	0	0.000781405	0	0
PPAPDC2	403313	broad.mit.edu	37	9	4662890	4662890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:4662890C>T	uc003zin.3	+	0	593	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA.	172						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CTGCTCTTCGCCCTGCTGTTG	0.652000														9			9		0	0	0.000442599	0	0
TRIM21	6737	broad.mit.edu	37	11	4411508	4411508	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:4411508C>T	uc001lyy.1	-	1	245	c.132G>A	c.(130-132)ggG>ggA	p.G44G		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	44					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CCCCACCTTTCCCAACCTGAG	0.582000														73			41		0	0	0.000781405	0	0
OR10G4	390264	broad.mit.edu	37	11	123887186	123887186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:123887186G>A	uc010sac.2	+	0	905	c.905G>A	c.(904-906)aGa>aAa	p.R302K		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L301L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTGAAACTTAGAGACAAAGTA	0.378000														1			27		0	0	0.000339439	0	0
OR8B3	390271	broad.mit.edu	37	11	124266609	124266609	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:124266609G>A	uc010saj.2	-	0	639	c.639C>T	c.(637-639)acC>acT	p.T213T	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAATGAGGATGGTACAACTGG	0.423000														4			41		0	0	0.000781405	0	0
ASCC3	10973	broad.mit.edu	37	6	101090551	101090551	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:101090551G>A	uc003pqk.3	-	23	4136	c.3807C>T	c.(3805-3807)atC>atT	p.I1269I		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1269	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACACTGCTCGGATGTAGTATT	0.383000														2			27		0	0	0.000227799	0	0
ADCY8	114	broad.mit.edu	37	8	132051705	132051705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:132051705G>A	uc003ytd.4	-	0	1131	c.875C>T	c.(874-876)gCc>gTc	p.A292V	ADCY8_uc010mds.3_Missense_Mutation_p.A292V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	292					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCAGGATGGCCCAGGTGAG	0.652000										HNSCC(32;0.087)				21			73		0	0	0.000781405	0	0
ATRNL1	26033	broad.mit.edu	37	10	117059641	117059641	+	Missense_Mutation	SNP	C	T	T	rs145512153		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:117059641C>T	uc001lcg.3	+	15	2899	c.2513C>T	c.(2512-2514)cCt>cTt	p.P838L	ATRNL1_uc010qsm.2_Missense_Mutation_p.P13L|ATRNL1_uc010qsn.2_5'Flank	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	838	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTGGCTTCCTGGCGAACCC	0.458000														18			26		0	0	0.000147802	0	0
CACNB2	783	broad.mit.edu	37	10	18807280	18807280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:18807280C>T	uc001ipr.2	+	7	880	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S	CACNB2_uc001ipt.2_Missense_Mutation_p.P236S|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.P250S|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.P246S|CACNB2_uc001ipv.3_Missense_Mutation_p.P222S|CACNB2_uc009xka.2_Missense_Mutation_p.P208S|CACNB2_uc001ipw.2_Missense_Mutation_p.P181S|CACNB2_uc001ipx.2_Missense_Mutation_p.P219S|CACNB2_uc009xkb.1_Missense_Mutation_p.S175F|CACNB2_uc010qcm.2_Missense_Mutation_p.P220S|CACNB2_uc001ipz.2_Missense_Mutation_p.P196S|CACNB2_uc001ipy.2_Missense_Mutation_p.P220S|CACNB2_uc010qcn.2_Missense_Mutation_p.P188S|CACNB2_uc010qco.1_Missense_Mutation_p.P188S|CACNB2_uc001iqa.2_Missense_Mutation_p.P226S|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	274					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCACACTCCTCCGTATGATGT	0.498000														34			21		0	0	0.000720815	0	0
PARD3	56288	broad.mit.edu	37	10	34673110	34673110	+	Silent	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:34673110A>G	uc010qej.2	-	7	1293	c.963T>C	c.(961-963)aaT>aaC	p.N321N	PARD3_uc010qep.2_Silent_p.N277N|PARD3_uc010qeq.2_Silent_p.N277N|PARD3_uc010qek.2_Silent_p.N321N|PARD3_uc010qel.2_Silent_p.N321N|PARD3_uc010qem.2_Silent_p.N321N|PARD3_uc010qen.2_Silent_p.N321N|PARD3_uc010qeo.2_Silent_p.N321N|PARD3_uc001ixo.2_Silent_p.N51N|PARD3_uc001ixr.2_Silent_p.N321N|PARD3_uc001ixq.2_Silent_p.N321N|PARD3_uc001ixp.2_Silent_p.N321N|PARD3_uc001ixt.1_Silent_p.N142N|PARD3_uc001ixu.2_Silent_p.N277N|PARD3_uc001ixs.1_5'UTR	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	321	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAATGCAATCATTCTCACGAA	0.388000														33			17		0	0	0.000958276	0	0
SNAP47	116841	broad.mit.edu	37	1	227947011	227947011	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:227947011G>A	uc001hrf.2	+	2	1362	c.948G>A	c.(946-948)cgG>cgA	p.R316R	SNAP47_uc001hra.2_Silent_p.R74R|SNAP47_uc001hrd.3_Silent_p.R316R|SNAP47_uc001hre.3_Silent_p.R74R	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	316						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCCGCCAGCGGTTTATTGGAA	0.458000														56			64		0	0	0.000781405	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243837	137243837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:137243837C>T	uc003qhe.3	+	0	436	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	91					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GCAGTCCAGCCTCACGCTCTG	0.701000														1			5		0	0	3.59834e-05	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416246	57416246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:57416246G>A	uc002eli.3	+	2	563	c.496G>A	c.(496-498)Ggg>Agg	p.G166R		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	166	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGGTTCCTCAGGGACCAGGCT	0.672000														29			21		0	0	0.000175454	0	0
SCN10A	6336	broad.mit.edu	37	3	38798606	38798606	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:38798606G>T	uc003ciq.3	-	7	995	c.995C>A	c.(994-996)cCg>cAg	p.P332Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	332					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTTAAAATCCGGGTTGTCAGA	0.502000														22			25		4.87955e-14	6.25008e-13	0.000878237	1	0
EGF	1950	broad.mit.edu	37	4	110864560	110864560	+	Missense_Mutation	SNP	C	T	T	rs144013010		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:110864560C>T	uc003hzy.4	+	2	930	c.478C>T	c.(478-480)Cct>Tct	p.P160S	EGF_uc011cfu.2_Missense_Mutation_p.P160S|EGF_uc011cfv.2_Missense_Mutation_p.P160S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	160					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.P160S(2)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTAAAATATCCTGCAAATGT	0.294000														119			47		0	0	0.000781405	0	0
DSC2	1824	broad.mit.edu	37	18	28660275	28660275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:28660275C>T	uc002kwl.4	-	9	1761	c.1307G>A	c.(1306-1308)gGt>gAt	p.G436D	DSC2_uc002kwk.4_Missense_Mutation_p.G436D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	436	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATTAACTACACCAATTTGCAA	0.383000														12			7		0	0	0.000274275	0	0
FAM86A	196483	broad.mit.edu	37	16	5135648	5135648	+	Silent	SNP	C	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:5135648C>G	uc002cyo.2	-	7	1027	c.978G>C	c.(976-978)ctG>ctC	p.L326L	ALG1_uc002cyj.3_3'UTR|ALG1_uc002cym.3_3'UTR|ALG1_uc010bue.3_3'UTR|FAM86A_uc002cyp.2_Silent_p.L292L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	326										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						GGGTGAGATTCAGCATTGCCA	0.488000														74			50		0	0	0.000781405	0	0
PTGER2	5732	broad.mit.edu	37	14	52793975	52793975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:52793975G>A	uc001wzr.3	+	1	1131	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	294						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TTCCCGAAAGGAAAAATGGGA	0.398000														29			22		0	0	0.00047179	0	0
KCNB1	3745	broad.mit.edu	37	20	47989650	47989650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:47989650G>A	uc002xur.1	-	1	2613	c.2447C>T	c.(2446-2448)tCc>tTc	p.S816F	KCNB1_uc002xus.1_Missense_Mutation_p.S816F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	816					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCTTCTGTGGAGTAAATACA	0.517000														101			50		0	0	0.000781405	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393487	145393487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:145393487C>T	uc003lnt.3	+	4	1160	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	SH3RF2_uc011dbl.1_Missense_Mutation_p.L308F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	308							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)			CTTGAACACTCTCAACCGGAT	0.587000														9			23		0	0	0.000375601	0	0
C15orf2	23742	broad.mit.edu	37	15	24921390	24921390	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:24921390C>T	uc001ywo.3	+	0	850	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	126					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GTTCACTCTCCTGCTGCCTTC	0.642000														38			29		0	0	0.000814825	0	0
SIN3B	23309	broad.mit.edu	37	19	16942413	16942413	+	Silent	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:16942413T>C	uc002ney.2	+	2	359	c.336T>C	c.(334-336)atT>atC	p.I112I	SIN3B_uc002new.3_Silent_p.I112I|SIN3B_uc002nez.2_Silent_p.I112I	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	112					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAATAGACATTCCCAAGAATG	0.498000														75			42		0	0	0.000374591	0	0
PLB1	151056	broad.mit.edu	37	2	28800973	28800973	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:28800973G>A	uc002rmb.2	+	22	1478	c.1434_splice	c.e22-1	p.E478_splice	PLB1_uc010ezj.2_Splice_Site_p.E489_splice|PLB1_uc002rmc.3_Splice_Site_p.E166_splice|PLB1_uc002rmd.1_Splice_Site	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	478	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGTTTCCACAGGGATCTACCT	0.562000														3			20		0	0	0.000586117	0	0
MYH8	4626	broad.mit.edu	37	17	10321977	10321977	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:10321977G>A	uc002gmm.2	-	4	591	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	166	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AACATGAACTGATAGGCATTG	0.507000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					75			63		0	0	0.000781405	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884732	24884732	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:24884732C>T	uc001wpf.4	+	8	4095	c.3777C>T	c.(3775-3777)tcC>tcT	p.S1259S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1259					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCCGATGGTCCCTCTTGGTTC	0.662000														15			23		0	0	0.000375601	0	0
EBF1	1879	broad.mit.edu	37	5	158524054	158524054	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:158524054G>A	uc010jip.3	-	1	521	c.219C>T	c.(217-219)gcC>gcT	p.A73A	EBF1_uc011ddw.2_5'Flank|EBF1_uc011ddx.2_Silent_p.A73A|EBF1_uc003lxl.4_Silent_p.A73A	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	73					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCGTAGAGGGCCAGGACGA	0.617000			T	HMGA2	lipoma									4			15		0	0	0.000308642	0	0
NXF3	56000	broad.mit.edu	37	X	102334770	102334770	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:102334770G>A	uc004eju.3	-	12	1152	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	NXF3_uc010noi.1_Nonsense_Mutation_p.R211*	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	361	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGACCCTGTCGATCTCCAGAG	0.522000														0			51		0	0	0.000781405	0	0
ZNF319	57567	broad.mit.edu	37	16	58031190	58031190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:58031190G>A	uc002emx.1	-	1	1603	c.980C>T	c.(979-981)cCc>cTc	p.P327L	ZNF319_uc021tjd.1_Missense_Mutation_p.P327L	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGGTCCGAGGGCCGCTTGAA	0.662000														18			12		0	0	0.00010058	0	0
OR2B6	26212	broad.mit.edu	37	6	27925100	27925100	+	Missense_Mutation	SNP	C	T	T	rs139328462		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:27925100C>T	uc011dkx.2	+	0	82	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTTCCACTCCTTGTGGTCTT	0.418000														38			35		0	0	0.000814825	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766554	27766554	+	Silent	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:27766554T>C	uc011mjy.2	+	0	1629	c.1542T>C	c.(1540-1542)ggT>ggC	p.G514G		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GCAGAGAAGGTACAATAAACT	0.498000														0			8		0	0	0.000274275	0	0
C2CD3	26005	broad.mit.edu	37	11	73850731	73850731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:73850731G>A	uc001ouu.2	-	3	853	c.626C>T	c.(625-627)cCa>cTa	p.P209L	C2CD3_uc001ouv.2_Missense_Mutation_p.P209L	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	209						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGGCCTTGATGGAACCTGAAA	0.433000														55			38		0	0	0.000953801	0	0
RNF123	63891	broad.mit.edu	37	3	49737767	49737767	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:49737767C>T	uc003cxh.3	+	12	1178	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RNF123_uc010hky.1_Silent_p.L26L|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	364						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCCTGGACCTCTTGTGGCTCT	0.587000														23			12		0	0	0.000151284	0	0
ZNF500	26048	broad.mit.edu	37	16	4810525	4810525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:4810525G>A	uc002cxp.1	-	4	975	c.728C>T	c.(727-729)cCa>cTa	p.P243L	ZNF500_uc002cxo.1_Missense_Mutation_p.P35L|ZNF500_uc010uxt.1_Missense_Mutation_p.P243L	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	243	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCGCTGAGCTGGGTCCATGCA	0.587000														38			26		0	0	0.000814825	0	0
CMYA5	202333	broad.mit.edu	37	5	79032218	79032218	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:79032218C>T	uc003kgc.3	+	1	7702	c.7630C>T	c.(7630-7632)Cag>Tag	p.Q2544*		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2544						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGAAAATCAGGTATATGT	0.388000														3			7		0	0	8.12818e-05	0	0
CDK4	1019	broad.mit.edu	37	12	58145430	58145430	+	Missense_Mutation	SNP	C	A	A	rs104894340		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:58145430C>A	uc001spv.3	-	1	363	c.71G>T	c.(70-72)cGt>cTt	p.R24L	CDK4_uc010ssb.2_5'UTR|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_Non-coding_Transcript	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	24	Protein kinase.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R24L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTGGGGATCACGGGCCTTGTA	0.557000			Mis			melanoma			Hereditary Melanoma					10			29		2.70662e-09	3.45073e-08	0.000279167	1	0
TUBB8	347688	broad.mit.edu	37	10	93605	93605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:93605G>A	uc001ifi.2	-	3	727	c.727C>T	c.(727-729)Ccg>Tcg	p.P243S		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	243					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AGCTGGCCCGGGAAGCGCAGG	0.602000														8			4		0	0	0.000602214	0	0
AP1B1	162	broad.mit.edu	37	22	29727460	29727460	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:29727460G>A	uc003afj.3	-	18	2689	c.2502C>T	c.(2500-2502)ctC>ctT	p.L834L	AP1B1_uc003afl.3_Silent_p.L807L|AP1B1_uc003afi.3_Silent_p.L827L|AP1B1_uc003afh.3_Silent_p.L31L|AP1B1_uc011ako.2_Silent_p.L387L	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	834					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTCCACAAAGAGGATGTGCA	0.582000														98			76		0	0	0.000781405	0	0
GLIS3	169792	broad.mit.edu	37	9	3937183	3937183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:3937183C>T	uc003zhx.1	-	4	2430	c.1717G>A	c.(1717-1719)Ggt>Agt	p.G573S	GLIS3_uc010mhf.1_5'UTR|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.G418S|GLIS3_uc003zhy.1_Missense_Mutation_p.G351S|GLIS3_uc003zhz.1_Missense_Mutation_p.G351S	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	418					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCTCGCAACCTTCAAACTGC	0.438000														14			13		0	0	0.000219431	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:53472914A>G	uc002qan.4	-	3		c.1587T>C								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		TTTGATTTTCAATTAAAAACC	0.338000														6			3		0	0	0.00024832	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAACAGCACATCAGCTTCG	0.433000														106			37		0	0	0.000319135	0	0
PHRF1	57661	broad.mit.edu	37	11	591435	591435	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:591435C>T	uc001lqe.3	+	4	603	c.472C>T	c.(472-474)Cga>Tga	p.R158*	PHRF1_uc010qwc.2_Nonsense_Mutation_p.R158*|PHRF1_uc010qwd.2_Nonsense_Mutation_p.R157*|PHRF1_uc010qwe.2_Nonsense_Mutation_p.R154*|PHRF1_uc009ybz.1_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	158							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CATTTGTATTCGAGCTCAATT	0.458000														20			10		0	0	0.00010058	0	0
MGAT4B	11282	broad.mit.edu	37	5	179228606	179228606	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:179228606G>A	uc003mkr.3	-	1	1181	c.417C>T	c.(415-417)gcC>gcT	p.A139A	MGAT4B_uc003mkp.3_5'Flank|MGAT4B_uc003mkq.3_5'UTR|MGAT4B_uc003mks.3_Silent_p.A124A	NM_054013	NP_463459	Q9UQ53	MGT4B_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B (MGAT4B), transcript variant 2, mRNA.	124					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTCTCCTTGGCCAGCAGGT	0.711000														5			17		0	0	0.000566183	0	0
C1orf27	54953	broad.mit.edu	37	1	186348920	186348920	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:186348920G>T	uc021pgj.1	+	0	22	c.3G>T	c.(1-3)atG>atT	p.M1I	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Missense_Mutation_p.M1I|C1orf27_uc021pgh.1_Missense_Mutation_p.M1I|C1orf27_uc021pgi.1_Missense_Mutation_p.M1I|C1orf27_uc021pgk.1_Missense_Mutation_p.M1I|C1orf27_uc021pgl.1_Missense_Mutation_p.M1I	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.	1						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TCCTAAAAATGGGAAGAACCT	0.348000														321			9		0.000442599	0.00557377	0.000442599	1	0
ASGR2	433	broad.mit.edu	37	17	7010400	7010400	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7010400G>A	uc002gep.3	-	6	849	c.582C>T	c.(580-582)tcC>tcT	p.S194S	ASGR2_uc002gen.1_Silent_p.S175S|ASGR2_uc002geo.2_Silent_p.S189S|ASGR2_uc002geq.3_Silent_p.S170S|ASGR2_uc002ger.3_Silent_p.S194S	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	194	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGGCCTTCCCGGAGTGAGAGA	0.632000														43			31		0	0	0.000953801	0	0
NTSR2	23620	broad.mit.edu	37	2	11802193	11802193	+	Silent	SNP	G	A	A	rs17853769		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:11802193G>A	uc002rbq.4	-	1	872	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	266					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TCTTCCATACGATGAAGCTGA	0.627000														8			61		0	0	0.000781405	0	0
MC2R	4158	broad.mit.edu	37	18	13884916	13884916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:13884916C>T	uc002ksp.1	-	1	779	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	MC2R_uc021uhs.1_Missense_Mutation_p.R201Q	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	201					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGTGTGGGATCGAGCCAGCAG	0.577000														29			13		0	0	0.000422831	0	0
GPR98	84059	broad.mit.edu	37	5	89953898	89953898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:89953898G>A	uc003kju.3	+	20	4651	c.4555G>A	c.(4555-4557)Gga>Aga	p.G1519R	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1519	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTCAGACAGGGAGAAACTAA	0.383000														30			61		0	0	0.000781405	0	0
KALRN	8997	broad.mit.edu	37	3	124436155	124436155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:124436155G>A	uc003ehg.3	+	58	8465	c.8338G>A	c.(8338-8340)Gta>Ata	p.V2780I	KALRN_uc003ehk.3_Missense_Mutation_p.V1083I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2779	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGGAAAAAGTAGCTTTCTA	0.438000														59			39		0	0	0.000228196	0	0
MEI1	150365	broad.mit.edu	37	22	42128253	42128253	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:42128253C>T	uc003baz.1	+	9	1126	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Silent_p.I367I|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	367				I -> T (in Ref. 4; AAH35720).			binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGTAGGGATCGAGGCAGTGG	0.557000														7			8		0	0	0.000442599	0	0
IL6ST	3572	broad.mit.edu	37	5	55250752	55250752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:55250752G>A	uc003jqq.3	-	10	1649	c.1336C>T	c.(1336-1338)Cca>Tca	p.P446S	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Missense_Mutation_p.P157S|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	446	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GATTCCCTTGGAGTAGTCCAT	0.383000			O		hepatocellular ca									86			42		0	0	0.000781405	0	0
CCR2	729230	broad.mit.edu	37	3	46399426	46399426	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:46399426C>T	uc003cpn.4	+	1	893	c.408C>T	c.(406-408)atC>atT	p.I136I	CCR2_uc003cpm.4_Silent_p.I136I|CCR2_uc021wxa.1_Silent_p.I136I	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	136					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCCTGACAATCGATAGATACC	0.463000														170			111		0	0	0.000781405	0	0
FAM13C	220965	broad.mit.edu	37	10	61062601	61062601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:61062601G>A	uc010qif.1	-	4	599	c.533C>T	c.(532-534)tCg>tTg	p.S178L	FAM13C_uc010qid.2_Missense_Mutation_p.S73L|FAM13C_uc001jkn.3_Missense_Mutation_p.S156L|FAM13C_uc001jko.3_Missense_Mutation_p.S156L|FAM13C_uc010qie.2_Missense_Mutation_p.S73L|FAM13C_uc001jkp.3_Missense_Mutation_p.S73L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	156										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCCTTTGGCGAAATGGCAGT	0.353000														38			33		0	0	0.000953801	0	0
AOC2	314	broad.mit.edu	37	17	40998066	40998067	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:40998066_40998067CC>AA	uc002ibu.3	+	0	1458_1459	c.1423_1424CC>AA	c.(1423-1425)cca>AAa	p.P475K	AOC2_uc002ibt.3_Missense_Mutation_p.P475K	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	475					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGTGTTGTACCCAAATGGGGCA	0.525000														110			7		0	0	6.4e-05	0	0
KRT9	3857	broad.mit.edu	37	17	39723534	39723534	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:39723534G>A	uc002hxe.4	-	6	1929	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	621	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.S621Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ACTAGGAATGGGATGATTTtc	0.512000														35			42		0	0	0.000374591	0	0
LAP3	51056	broad.mit.edu	37	4	17606287	17606287	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:17606287C>T	uc003gph.1	+	10	1419	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_015907	NP_056991	P28838	AMPL_HUMAN	Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA.	419					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACAAACTCTTCGAGGTAGGAA	0.413000														27			22		0	0	0.000586117	0	0
AADACL2	344752	broad.mit.edu	37	3	151475240	151475240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:151475240G>A	uc003ezc.3	+	4	1184	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.R142Q	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	355						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACAAGACTTCGAAATGTTGGA	0.358000														37			28		0	0	0.000279167	0	0
TCRA	0	broad.mit.edu	37	14	22466309	22466309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:22466309G>A	uc001wcp.2	+	1	268	c.239G>A	c.(238-240)aGa>aAa	p.R80K	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Missense_Mutation_p.R80K|TCRA_uc001wcr.1_Missense_Mutation_p.R40K|TCRA_uc001wcs.1_Missense_Mutation_p.R40K|TCRA_uc010ajf.1_Missense_Mutation_p.R40K|TCRA_uc010tmm.2_Intron|TCRA_uc001wcq.3_Missense_Mutation_p.R80K|TCRA_uc010ajd.1_Missense_Mutation_p.R80K					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		CACAGTGGAAGATTAAGAGTC	0.423000														26			30		0	0	0.000279167	0	0
CR2	1380	broad.mit.edu	37	1	207641906	207641906	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:207641906C>T	uc001hfw.3	+	2	599	c.480C>T	c.(478-480)atC>atT	p.I160I	CR2_uc001hfv.3_Silent_p.I160I|CR2_uc009xch.3_Silent_p.I160I|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	160	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCCTATGATCCACAATGGAC	0.433000														10			11		0	0	0.00010058	0	0
PCSK2	5126	broad.mit.edu	37	20	17339059	17339059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:17339059C>T	uc002wpm.3	+	2	724	c.370C>T	c.(370-372)Cct>Tct	p.P124S	PCSK2_uc002wpl.3_Missense_Mutation_p.P105S|PCSK2_uc010zrm.2_Missense_Mutation_p.P89S	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	124	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATGAACGATCCTCTTTTTAC	0.408000														11			10		0	0	0.000673444	0	0
MYH3	4621	broad.mit.edu	37	17	10538846	10538846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:10538846G>A	uc002gmq.2	-	29	4098	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1337					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTCGTGGCGGGAGGACTGCAG	0.557000														72			59		0	0	0.000781405	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255594	77255594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:77255594C>T	uc001xsv.3	-	9	2103	c.1990G>A	c.(1990-1992)Ggg>Agg	p.G664R	AK125727_uc001xsu.1_5'Flank	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	664										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACTTCCATCCCGAAGCTGGCT	0.562000														74			64		0	0	0.000781405	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422340	115422340	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:115422340C>T	uc011lwx.1	+	4	2401	c.2226C>T	c.(2224-2226)tgC>tgT	p.C742C	KIAA1958_uc004bgf.1_Silent_p.C714C	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	714										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCCACAGCTGCTGCCAGTGAG	0.617000														10			24		0	0	0.000586117	0	0
CLDN7	1366	broad.mit.edu	37	17	7163815	7163815	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7163815A>C	uc002gfm.4	-	3	1416	c.514T>G	c.(514-516)Tct>Gct	p.S172A	CLDN7_uc010cmc.3_Silent_p.G143G|CLDN7_uc002gfn.4_Missense_Mutation_p.S172A	NM_001307	NP_001298	O95471	CLD7_HUMAN	Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.	172					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	p.S172A(2)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ACTAGGGCAGACCCTGCCCAG	0.572000														10			4		0	0	3.59834e-05	0	0
C7orf31	136895	broad.mit.edu	37	7	25175609	25175609	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:25175609G>A	uc003sxn.1	-	9	2316	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	585										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AGAAATAATAGGAATTATGGC	0.373000														83			40		0	0	0.000228196	0	0
DOCK10	55619	broad.mit.edu	37	2	225638013	225638013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:225638013G>A	uc010fwz.1	-	52	6304	c.6065C>T	c.(6064-6066)tCg>tTg	p.S2022L	DOCK10_uc002vob.2_Missense_Mutation_p.S2016L|DOCK10_uc002voa.2_Missense_Mutation_p.S678L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	2022	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTCTGTGCTCGATTGGCTAAT	0.423000														6			53		0	0	0.000781405	0	0
FCN3	8547	broad.mit.edu	37	1	27700472	27700472	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:27700472G>A	uc001boa.3	-	2	222	c.216C>T	c.(214-216)ggC>ggT	p.G72G	FCN3_uc001bob.3_Silent_p.G72G	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	72	Collagen-like.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CACCCTTGGGGCCCATCTTGC	0.582000														40			19		0	0	0.000175454	0	0
SMTNL1	219537	broad.mit.edu	37	11	57317531	57317531	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:57317531G>A	uc021qjh.1	+	6	1433	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	477										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CATACATCCAGGAACTGTACC	0.567000														15			13		0	0	0.000219431	0	0
GSDMA	284110	broad.mit.edu	37	17	38131159	38131159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:38131159G>A	uc002htl.1	+	9	1031	c.913G>A	c.(913-915)Ggg>Agg	p.G305R	GSDMA_uc002htm.1_Missense_Mutation_p.G305R	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	305					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACAGCTTGAAGGGGCTCTAGA	0.542000														18			15		0	0	0.000308642	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	A	A	rs28934573		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7577559G>A	uc002gim.2	-	6	916	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_uc002gig.1_Missense_Mutation_p.S241F|TP53_uc002gih.3_Missense_Mutation_p.S241F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109F|TP53_uc010cnf.1_Missense_Mutation_p.S109F|TP53_uc002gii.1_Missense_Mutation_p.S109F|TP53_uc010cni.1_Missense_Mutation_p.S241F|TP53_uc010cnh.1_Missense_Mutation_p.S241F|TP53_uc002gij.2_Missense_Mutation_p.S241F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148F|TP53_uc002gio.2_Missense_Mutation_p.S109F|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(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)		GCCCATGCAGGAACTGTTACA	0.572000		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)				49			32		0	0	0.000374591	0	0
HCK	3055	broad.mit.edu	37	20	30686916	30686916	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:30686916C>T	uc002wxh.3	+	11	1593	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	HCK_uc010gdy.3_Silent_p.T432T|HCK_uc021wbv.1_Silent_p.T431T|HCK_uc002wxi.3_Silent_p.T430T	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	452	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGATCGTCACCTACGGCCGGA	0.557000														81			70		0	0	0.000781405	0	0
ARL1	400	broad.mit.edu	37	12	101794879	101794879	+	Silent	SNP	T	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:101794879T>A	uc001tib.3	-	3	446	c.297A>T	c.(295-297)cgA>cgT	p.R99R	ARL1_uc010svn.2_Silent_p.R53R|ARL1_uc010svo.2_Non-coding_Transcript	NM_001177	NP_001168	P40616	ARL1_HUMAN	Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.	99					small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity|enzyme activator activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		AAATGCCAATTCGGTCTCGGT	0.373000														53			31		0	0	0.00058488	0	0
TFDP2	7029	broad.mit.edu	37	3	141682663	141682663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:141682663G>A	uc003eun.4	-	9	1329	c.875C>T	c.(874-876)tCc>tTc	p.S292F	TFDP2_uc003euk.4_Missense_Mutation_p.S264F|TFDP2_uc003eul.4_Missense_Mutation_p.S232F|TFDP2_uc011bnf.2_Missense_Mutation_p.S195F|TFDP2_uc011bng.2_Missense_Mutation_p.S156F|TFDP2_uc003eum.4_Missense_Mutation_p.S232F	NM_001178139	NP_001171613	Q14188	TFDP2_HUMAN	Homo sapiens transcription factor Dp-2 (E2F dimerization partner 2) (TFDP2), transcript variant 3, mRNA.	292	DCB2.|Dimerization (Potential).				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CTTGTCACTGGAGATGCTGCA	0.453000														51			43		0	0	0.000781405	0	0
ABCF3	55324	broad.mit.edu	37	3	183908988	183908988	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:183908988A>G	uc003fmz.2	+	15	1647	c.1514A>G	c.(1513-1515)cAc>cGc	p.H505R	ABCF3_uc003fna.2_Missense_Mutation_p.H499R|ABCF3_uc003fnb.2_Missense_Mutation_p.H186R	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	505	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATCCGAAGCACGTCATCTTC	0.542000														74			76		0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126412767	126412767	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:126412767G>A	uc003ifj.4	+	16	14790	c.14790G>A	c.(14788-14790)tgG>tgA	p.W4930*	FAT4_uc011cgp.2_Nonsense_Mutation_p.W3171*|FAT4_uc003ifi.1_Nonsense_Mutation_p.W2407*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4930					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTTCAACTGGGACAACCTTT	0.532000														29			37		0	0	0.000270559	0	0
BPI	671	broad.mit.edu	37	20	36937392	36937392	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:36937392C>T	uc002xib.2	+	2	380	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	106					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCAATGTGGGCCTTAAGTTCT	0.453000														55			50		0	0	0.000781405	0	0
SPON1	10418	broad.mit.edu	37	11	14279389	14279389	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:14279389C>T	uc001mle.3	+	11	1702	c.1434C>T	c.(1432-1434)ccC>ccT	p.P478P		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	479	TSP type-1 1.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.P478S(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TCAGCGTCCCCTGCCCTGACA	0.637000														5			3		0	0	6.4e-05	0	0
OR51E2	81285	broad.mit.edu	37	11	4703040	4703040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:4703040C>T	uc001lzk.2	-	1	1146	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	OR51E2_uc021qcr.1_Missense_Mutation_p.R301Q	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCCAGCACCCGTGTTCTGAT	0.488000														26			23		0	0	0.000295444	0	0
NPHP3	27031	broad.mit.edu	37	3	132419248	132419248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:132419248G>A	uc003epe.2	-	10	1777	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F	NPHP3_uc003epd.2_5'UTR|NPHP3_uc003epf.2_Missense_Mutation_p.S313F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	558					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAAAATGGGAAAGAATCAG	0.373000														24			25		0	0	0.000339439	0	0
TEX13A	56157	broad.mit.edu	37	X	104464352	104464352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:104464352C>T	uc004ema.3	-	2	638	c.526G>A	c.(526-528)Gag>Aag	p.E176K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.E176K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	176						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCTTCTTCCTCCTCAGCTGCT	0.637000														3			20		0	0	0.000720815	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563414	140563414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:140563414G>A	uc003liv.3	+	0	2435	c.1280G>A	c.(1279-1281)gGg>gAg	p.G427E		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	427	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGATATGGGGACTCCAAGG	0.468000														38			16		0	0	0.000308642	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045287	76045287	+	Silent	SNP	G	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:76045287G>T	uc002jud.2	+	3	744	c.144G>T	c.(142-144)gcG>gcT	p.A48A	TNRC6C_uc002juf.2_Silent_p.A48A|TNRC6C_uc002jue.2_Silent_p.A48A	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	48	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ATGGAAGTGCGGCCAGAGTGT	0.547000														71			51		2.2618e-39	2.91521e-38	0.000781405	1	0
CDH7	1005	broad.mit.edu	37	18	63477014	63477014	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:63477014C>T	uc002lkb.3	+	2	711	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CDH7_uc002ljz.3_Silent_p.F95F|CDH7_uc002lka.3_Silent_p.F95F	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTTCCATTTTCATTATTGATG	0.468000														6			8		0	0	0.000157383	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985120	140985120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:140985120G>A	uc011mwp.2	+	6	1576	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	MAGEC3_uc004fbs.3_Missense_Mutation_p.E228K|MAGEC3_uc010nsj.3_Missense_Mutation_p.E228K|MAGEC3_uc022cfh.1_Missense_Mutation_p.E228K	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	526	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTTCTTTGAAGACACATT	0.438000														4			114		0	0	0.000781405	0	0
EIF6	3692	broad.mit.edu	37	20	33872062	33872062	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:33872062A>G	uc002xbv.1	-	1	326	c.110T>C	c.(109-111)gTg>gCg	p.V37A	EIF6_uc002xbx.1_Missense_Mutation_p.V37A|EIF6_uc002xbz.1_Missense_Mutation_p.C77R|EIF6_uc002xby.1_Non-coding_Transcript	NM_181468	NP_852133	P56537	IF6_HUMAN	Homo sapiens eukaryotic translation initiation factor 6 (EIF6), transcript variant 2, mRNA.	37					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)			GCCCTCGAACACACTGTAGGG	0.672000														63			17		0	0	0.000132079	0	0
CCDC150	284992	broad.mit.edu	37	2	197540896	197540896	+	Silent	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:197540896T>C	uc002utp.1	+	10	1302	c.1167T>C	c.(1165-1167)ttT>ttC	p.F389F	CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_Silent_p.F57F	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	389										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CGCAGACATTTCAAGAACAAA	0.403000														10			47		0	0	0.000781405	0	0
NOTCH2	4853	broad.mit.edu	37	1	120465292	120465293	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:120465292_120465293CC>AA	uc001eik.3	-	26	5265_5266	c.4968_4969GG>TT	c.(4966-4971)cagggg>caTTgg	p.1656_1657QG>HW		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1656	Negative regulatory region (NRR).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACAGGGTCCCCTGTATGGCGT	0.530000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					857			19		0	0	6.4e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	41101054	41101054	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:41101054C>T	uc002xkg.3	-	7	1486	c.1302G>A	c.(1300-1302)caG>caA	p.Q434Q	PTPRT_uc010ggj.3_Silent_p.Q434Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	434	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGGCCTCGTACTGCTGCTGGT	0.627000														43			26		0	0	0.000184323	0	0
EGFR	1956	broad.mit.edu	37	7	55231516	55231516	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:55231516G>A	uc003tqk.3	+	14	1968	c.1722_splice	c.e14+1	p.R574_splice	EGFR_uc003tqi.3_Splice_Site_p.R574_splice|EGFR_uc003tqj.3_Splice_Site_p.R574_splice|EGFR_uc022adm.1_Splice_Site_p.R574_splice|EGFR_uc010kzg.2_Splice_Site_p.R529_splice|EGFR_uc022adn.1_Splice_Site_p.R529_splice|EGFR_uc011kco.2_Splice_Site_p.R521_splice|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron|EGFR_uc003tqn.3_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	574					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCACAGGACGGGTAAGAGCCC	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				91			48		0	0	0.000781405	0	0
PDGFC	56034	broad.mit.edu	37	4	157771497	157771497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:157771497G>A	uc003iph.2	-	1	681	c.190C>T	c.(190-192)Cct>Tct	p.P64S	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	64	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TAAGTATGAGGAAACCTTGGG	0.368000														27			56		0	0	0.000781405	0	0
SERPINA3	12	broad.mit.edu	37	14	95080940	95080940	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:95080940G>A	uc001ydp.3	+	1	321	c.162G>A	c.(160-162)gtG>gtA	p.V54V	SERPINA3_uc001ydo.4_Silent_p.V79V|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Silent_p.V54V|SERPINA3_uc001yds.3_Silent_p.V54V	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	54					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.V54G(1)|p.N53I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCGCCAACGTGGACTTCGCTT	0.562000														56			52		0	0	0.000781405	0	0
MSLNL	401827	broad.mit.edu	37	16	824857	824857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:824857G>A	uc002cjz.1	-	6	1715	c.1715C>T	c.(1714-1716)gCc>gTc	p.A572V		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	221					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTTCCCACCGGCCAGCAGTGA	0.711000														12			10		0	0	0.000442599	0	0
IGSF9	57549	broad.mit.edu	37	1	159906692	159906692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:159906692G>A	uc001fur.2	-	4	605	c.407C>T	c.(406-408)cCt>cTt	p.P136L	IGSF9_uc001fuq.2_Missense_Mutation_p.P136L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	136	Ig-like 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGAATTGAGGGGGTGCTGC	0.637000											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			30		0	0	0.00058488	0	0
PXDNL	137902	broad.mit.edu	37	8	52384816	52384816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:52384816C>T	uc003xqu.4	-	7	844	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	248	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GACGGTATTTCCTGATGGTAC	0.433000														129			48		0	0	0.000781405	0	0
COASY	80347	broad.mit.edu	37	17	40716772	40716772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:40716772G>A	uc010cyj.3	+	5	1382	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S	COASY_uc002hzz.3_Missense_Mutation_p.G365S|COASY_uc002iab.3_Missense_Mutation_p.G70S|COASY_uc002iad.3_Missense_Mutation_p.G365S|COASY_uc002iac.3_Missense_Mutation_p.G365S|COASY_uc002iae.3_Missense_Mutation_p.G160S|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	365	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGGGCTGACTGGCATCAGTGG	0.582000														75			63		0	0	0.000781405	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														37			10		0	0	0.000442599	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174107	63174107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:63174107G>A	uc001nww.3	+	6	1480	c.1212G>A	c.(1210-1212)atG>atA	p.M404I	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	404					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGAAATACATGAACCGTCGAG	0.493000														9			8		0	0	0.000157383	0	0
CNGB1	1258	broad.mit.edu	37	16	57921948	57921948	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:57921948C>A	uc002emt.2	-	31	3338	c.3273G>T	c.(3271-3273)aaG>aaT	p.K1091N	CNGB1_uc010cdh.2_Missense_Mutation_p.K1085N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1091					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCTTCTCCTCCTTGGGCTTAT	0.567000														33			29		3.1745e-13	4.05981e-12	0.000227799	1	0
REG4	83998	broad.mit.edu	37	1	120342428	120342428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:120342428C>T	uc001eig.3	-	4	663	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	REG4_uc001eif.3_Missense_Mutation_p.E75K	NM_001159352	NP_114433	Q9BYZ8	REG4_HUMAN	Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA.	75	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GTGCTGGCTTCCTTTAAACTC	0.498000														698			130		0	0	0.000781405	0	0
MYO9B	4650	broad.mit.edu	37	19	17212878	17212878	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:17212878C>T	uc010eak.3	+	1	503	c.351C>T	c.(349-351)acC>acT	p.T117T	MYO9B_uc002nfi.3_Silent_p.T117T|MYO9B_uc002nfj.1_Silent_p.T117T	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	117	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGATGGAACCATCAAGTACG	0.652000														13			13		0	0	0.00010058	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019253	245019253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:245019253C>T	uc001iaz.1	-	10	2338	c.2120G>A	c.(2119-2121)aGa>aAa	p.R707K	HNRNPU_uc001iay.1_Missense_Mutation_p.R431K|HNRNPU_uc001iba.1_Missense_Mutation_p.R688K	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	707	Gly-rich.				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding	p.G706G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCCACGTCCTCTATGGCCACC	0.403000														66			60		0	0	0.000781405	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87323230	87323230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:87323230C>T	uc003ujb.3	+	2	656	c.245C>T	c.(244-246)tCc>tTc	p.S82F	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Intron|RUNDC3B_uc011khe.2_Intron|RUNDC3B_uc003ujc.3_Intron|RUNDC3B_uc003ujd.3_Intron	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	82	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AAAGAGATTTCCCAAAGTTGC	0.423000														2			42		0	0	0.000680045	0	0
TH	7054	broad.mit.edu	37	11	2185590	2185590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:2185590G>A	uc001lvq.3	-	13	1479	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	TH_uc001lvp.3_Missense_Mutation_p.S483F|TH_uc001lvr.3_Missense_Mutation_p.S456F|TH_uc010qxj.2_Missense_Mutation_p.S460F|TH_uc001lvs.3_Missense_Mutation_p.S362F|TH_uc001lvt.3_Missense_Mutation_p.S366F	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	487					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GAACTTCACGGAGAAGGGGCG	0.672000														29			21		0	0	0.00047179	0	0
OR2M5	127059	broad.mit.edu	37	1	248308924	248308924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:248308924G>A	uc010pze.2	+	0	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGCAATCATTGATGCTGTAGC	0.468000														43			47		0	0	0.000781405	0	0
SLC12A3	6559	broad.mit.edu	37	16	56918052	56918052	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:56918052G>A	uc002ekd.4	+	13	1790	c.1761G>A	c.(1759-1761)tgG>tgA	p.W587*	SLC12A3_uc010ccm.3_Nonsense_Mutation_p.W587*|SLC12A3_uc010ccn.3_Nonsense_Mutation_p.W586*	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	587					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCACCTGGTGGGCGGCCCTCA	0.597000														33			33		0	0	0.00058488	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656669	31656669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:31656669C>T	uc002wym.1	+	9	1039	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	347					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GAGGGAAGCTCCCACGGTCAC	0.577000														19			24		0	0	0.000586117	0	0
SYT16	83851	broad.mit.edu	37	14	62567164	62567164	+	Silent	SNP	T	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:62567164T>G	uc001xfu.1	+	5	1874	c.1677T>G	c.(1675-1677)cgT>cgG	p.R559R	SYT16_uc010tse.1_Silent_p.R117R	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	559	C2 2.							p.V558A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGATGTCCCGTTGCAAGACGT	0.453000														4			4		0	0	3.59834e-05	0	0
FAM129C	199786	broad.mit.edu	37	19	17660308	17660308	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:17660308G>A	uc021uqj.1	+	14	1953	c.1815G>A	c.(1813-1815)ttG>ttA	p.L605L	FAM129C_uc021uqi.1_Silent_p.L605L|FAM129C_uc002ngy.4_Silent_p.L331L|FAM129C_uc010xpu.2_Intron|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Silent_p.L295L	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	605										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						ACGGCTGCTTGGAGGTCCCAT	0.562000														51			53		0	0	0.000781405	0	0
PAX5	5079	broad.mit.edu	37	9	36882068	36882068	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:36882068G>A	uc003zzo.1	-	7	1393	c.945C>T	c.(943-945)taC>taT	p.Y315Y	PAX5_uc011lpt.1_Silent_p.Y111Y|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Silent_p.Y272Y|PAX5_uc010mlr.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.Y272Y|PAX5_uc011lqa.1_Silent_p.Y207Y|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Intron|PAX5_uc010mlp.1_Silent_p.Y315Y	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	315					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)|p.G314W(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CGTGTGGAGGGTACCCGGGGA	0.632000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""									18			6		0	0	0.000274275	0	0
MTSS1	9788	broad.mit.edu	37	8	125597365	125597365	+	Silent	SNP	G	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:125597365G>T	uc003yrl.2	-	5	957	c.423C>A	c.(421-423)tcC>tcA	p.S141S	MTSS1_uc003yrj.2_Silent_p.S141S|MTSS1_uc003yrk.2_Silent_p.S141S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	141	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCGTATCCGAGGACTTCTTTT	0.358000														312			59		8.4772e-36	1.09091e-34	0.000781405	1	0
FAAH	2166	broad.mit.edu	37	1	46860092	46860092	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:46860092G>A	uc001cpu.2	+	0	154	c.72G>A	c.(70-72)gcG>gcA	p.A24A		NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	24					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GCTTCGTGGCGGCGGCCGTGG	0.756000														1			5		0	0	0.000602214	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883054	4883054	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:4883054G>A	uc010cku.2	-	8	2044	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	CAMTA2_uc002gag.2_Silent_p.I520I|CAMTA2_uc002gah.2_Silent_p.I521I|CAMTA2_uc002gai.2_Silent_p.I523I|CAMTA2_uc010ckv.1_Silent_p.I168I|CAMTA2_uc010vsu.2_Silent_p.I334I	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	521	IPT/TIG.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCGGAGCAGGGATGCTTGGAG	0.562000														78			59		0	0	0.000781405	0	0
EPPK1	83481	broad.mit.edu	37	8	144945045	144945045	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:144945045G>A	uc003zaa.1	-	0	2390	c.2377C>T	c.(2377-2379)Ctg>Ttg	p.L793L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	793						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGAGGTACAGGCCCGTCTCG	0.627000														15			53		0	0	0.000781405	0	0
C8A	731	broad.mit.edu	37	1	57372379	57372379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:57372379C>T	uc001cyo.2	+	7	1268	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	379	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.S379F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTTGGAGGCTCCTTGGGCATT	0.393000														21			40		0	0	0.000589545	0	0
OR2M5	127059	broad.mit.edu	37	1	248309049	248309049	+	Silent	SNP	C	T	T	rs148861955		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:248309049C>T	uc010pze.2	+	0	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AGGTTCTTTTCATCTGCTGTA	0.433000														60			48		0	0	0.000781405	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075359	106075359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:106075359G>A	uc001kyf.3	-	2	904	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	ITPRIP_uc001kye.3_Missense_Mutation_p.R151W|ITPRIP_uc001kyg.3_Missense_Mutation_p.R151W|ITPRIP_uc021pxv.1_Missense_Mutation_p.R151W	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	151						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GTGGCCCCCCGGATGCAGCGC	0.672000														11			13		0	0	0.00010058	0	0
OR12D3	81797	broad.mit.edu	37	6	29342555	29342555	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:29342555C>T	uc003nme.3	-	0	514	c.510G>A	c.(508-510)caG>caA	p.Q170Q		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GATTGAGTTTCTGAGAGCCAC	0.468000														24			34		0	0	0.000692331	0	0
PCSK1	5122	broad.mit.edu	37	5	95729011	95729011	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:95729011C>T	uc003kls.2	-	13	2195	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	PCSK1_uc010jbi.2_Silent_p.G342G|PCSK1_uc021ybq.1_Silent_p.G605G	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	652					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTCCGGCCCCCTACGCTGC	0.557000														26			4		0	0	0.00024832	0	0
KLK4	9622	broad.mit.edu	37	19	51412004	51412004	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:51412004G>A	uc002pua.1	-	2	306	c.306C>T	c.(304-306)tcC>tcT	p.S102S	KLK4_uc002pty.1_Silent_p.S53S|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Silent_p.S7S|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_Silent_p.S7S|KLK4_uc002pud.1_Silent_p.S7S	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	102	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GGTGCCGTACGGAGAGGCTGG	0.612000														2			31		0	0	0.000319135	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Silent	SNP	G	A	A	rs149915358	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:121739511G>A	uc003ksw.1	+	2	287	c.81G>A	c.(79-81)acG>acA	p.T27T	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Silent_p.T27T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	27					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTCAAGACGATCCCAGAAC	0.453000														15			4		0	0	8.12818e-05	0	0
SPRY3	10251	broad.mit.edu	37	X	155004021	155004021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:155004021C>T	uc022cio.1	+	0	488	c.488C>T	c.(487-489)cCt>cTt	p.P163L	SPRY3_uc004fnq.1_Missense_Mutation_p.P163L	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	163	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCAGCTCGCCCTCTCCCCTCC	0.592000														6			54		0	0	0.000781405	0	0
MSMO1	6307	broad.mit.edu	37	4	166263024	166263024	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:166263024C>T	uc003ire.3	+	5	938	c.808C>T	c.(808-810)Cga>Tga	p.R270*	MSMO1_uc003irf.3_Nonsense_Mutation_p.R139*	NM_006745	NP_006736	Q15800	ERG25_HUMAN	Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA.	270					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	ATGGTGGGATCGAATTTTTGG	0.373000														45			83		0	0	0.000781405	0	0
ROBO2	6092	broad.mit.edu	37	3	77684063	77684063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:77684063C>T	uc011bgk.2	+	24	4458	c.3815C>T	c.(3814-3816)cCa>cTa	p.P1272L	ROBO2_uc021xat.1_Missense_Mutation_p.P1284L|ROBO2_uc003dpy.4_Missense_Mutation_p.P1268L|ROBO2_uc003dpz.3_Missense_Mutation_p.P1333L|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1268					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTACCAGCCCATTTTCTACT	0.468000														48			26		0	0	0.000339439	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72434327	72434327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:72434327G>A	uc001jrg.3	+	1	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E	ADAMTS14_uc001jrh.3_Missense_Mutation_p.G33E	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	33					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CACCTCTCTGGAAAGCTCAGT	0.577000														22			14		0	0	0.000566183	0	0
ODZ3	55714	broad.mit.edu	37	4	183594347	183594347	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:183594347A>G	uc003ivd.1	+	5	1376	c.1301A>G	c.(1300-1302)aAa>aGa	p.K434R		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	434					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TATGGCCGGAAAGGCTTACCG	0.383000														43			23		0	0	0.000147802	0	0
NEBL	10529	broad.mit.edu	37	10	21169763	21169763	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:21169763T>G	uc001iqi.3	-	4	837	c.440A>C	c.(439-441)gAg>gCg	p.E147A	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	147					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGTTTAACCTCAGGGGGCTC	0.413000														20			18		0	0	0.00074312	0	0
TBX10	347853	broad.mit.edu	37	11	67402374	67402375	+	Missense_Mutation	DNP	GG	AA	AA	rs148072042		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:67402374_67402375GG>AA	uc001omp.3	-	2	377_378	c.289_290CC>TT	c.(289-291)ccc>TTc	p.P97F		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	97					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CACCTGGAAGGGGGGGAACATC	0.678000														32			14		0	0	6.4e-05	0	0
PCNT	5116	broad.mit.edu	37	21	47864701	47864701	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:47864701G>T	uc002zji.4	+	45	10041	c.9934G>T	c.(9934-9936)Gtg>Ttg	p.V3312L	PCNT_uc002zjj.3_Missense_Mutation_p.V3115L	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3312					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCATTTAGAAGTGATCCAGCA	0.438000														50			11		9.31168e-06	0.000117986	0.000151284	1	0
PACS1	55690	broad.mit.edu	37	11	66008961	66008961	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:66008961C>T	uc001oha.2	+	21	2627	c.2493C>T	c.(2491-2493)ccC>ccT	p.P831P	PACS1_uc010rou.2_Silent_p.P367P	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	831					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGGGCCACCCCGGGGAGCGGA	0.617000														9			5		0	0	3.59834e-05	0	0
NOS1	4842	broad.mit.edu	37	12	117749380	117749380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:117749380G>A	uc001twn.2	-	2	1454	c.743C>T	c.(742-744)tCa>tTa	p.S248L	NOS1_uc021reo.1_5'Flank|NOS1_uc001twm.2_Missense_Mutation_p.S248L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	248					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGTTTGTGTGACTTGCCGTC	0.552000														55			12		0	0	0.000422831	0	0
FAT3	120114	broad.mit.edu	37	11	92531727	92531727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:92531727C>T	uc001pdj.4	+	8	5565	c.5548C>T	c.(5548-5550)Cat>Tat	p.H1850Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1850	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCATTTTCATGTGCATGT	0.463000										TCGA Ovarian(4;0.039)				8			65		0	0	0.000781405	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913451	77913451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:77913451G>A	uc022bzi.1	-	0	467	c.467C>T	c.(466-468)tCa>tTa	p.S156L	ZCCHC5_uc004edc.1_Missense_Mutation_p.S156L	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	156	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						CTGGGGTTCTGAATTCTTGGG	0.557000														1			14		0	0	0.000422831	0	0
TMEM63B	55362	broad.mit.edu	37	6	44116047	44116048	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:44116047_44116048GG>TT	uc003owr.3	+	12	1110_1111	c.1046_1047GG>TT	c.(1045-1047)cgg>cTT	p.R349L	TMEM63B_uc003owq.1_Missense_Mutation_p.R349L|TMEM63B_uc003ows.3_Missense_Mutation_p.R252L|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	349						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GACTACAAGCGGGAGAAGGAGA	0.550000														231			8		0	0	6.4e-05	0	0
ATXN2	6311	broad.mit.edu	37	12	111893892	111893892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:111893892G>A	uc001tsj.3	-	22	3847	c.3685C>T	c.(3685-3687)Cat>Tat	p.H1229Y	ATXN2_uc001tsh.3_Missense_Mutation_p.H964Y|ATXN2_uc001tsi.3_Missense_Mutation_p.H922Y|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Missense_Mutation_p.H230Y	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1229					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding	p.H1229L(2)|p.H1229Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGAGAAGGATGGATCGTAAAG	0.557000														55			125		0	0	0.000781405	0	0
LRIT3	345193	broad.mit.edu	37	4	110788925	110788925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:110788925G>A	uc003hzx.4	+	1	776	c.583G>A	c.(583-585)Gga>Aga	p.G195R	LRIT3_uc003hzw.4_Missense_Mutation_p.G57R	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	195	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCGCCTCACAGGAATTTTGTT	0.458000														41			15		0	0	0.000422831	0	0
MASP2	10747	broad.mit.edu	37	1	11102948	11102948	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:11102948G>A	uc001aru.3	-	5	905	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	291	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCGTGTAGTGGATCTTCCAGC	0.532000														31			61		0	0	0.000781405	0	0
OR4M2	390538	broad.mit.edu	37	15	22368636	22368636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:22368636C>T	uc010tzu.2	+	0	159	c.61C>T	c.(61-63)Cca>Tca	p.P21S	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCCAGACTCCAGAGGTCCA	0.363000														19			6		0	0	3.59834e-05	0	0
CELF5	60680	broad.mit.edu	37	19	3275854	3275854	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:3275854G>A	uc002lxm.3	+	4	432	c.395_splice	c.e4-1	p.R132_splice	CELF5_uc010dtj.2_Splice_Site_p.R132_splice|CELF5_uc002lxl.2_Splice_Site_p.R132_splice|CELF5_uc010xhg.2_Splice_Site|CELF5_uc002lxn.3_Splice_Site	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	132					mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CCGCCCACAGGGGACCGGAAG	0.682000														11			23		0	0	0.000878237	0	0
CAMK2A	815	broad.mit.edu	37	5	149624735	149624735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:149624735C>T	uc003lru.2	-	12	1188	c.973G>A	c.(973-975)Gat>Aat	p.D325N	CAMK2A_uc003lrt.2_Missense_Mutation_p.D325N|CAMK2A_uc010jhe.2_Missense_Mutation_p.D305N	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	325					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCACACCATCGCTCTTCTTG	0.617000														15			31		0	0	0.000191422	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333147	42333147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:42333147C>T	uc002igf.4	-	13	1843	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	565	Involved in anion transport.|Membrane (anion exchange).		G -> A (in WU antigen).		bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGCAGGGGGCCCTGAGGTTT	0.522000														63			57		0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453135	140453136	+	Missense_Mutation	DNP	CA	TT	TT	rs121913377		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:140453135_140453136CA>TT	uc003vwc.4	-	14	1860_1861	c.1799_1800TG>AA	c.(1798-1800)gtg>gAA	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.V600V(2)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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)	ATCGAGATTTCACTGTAGCTAG	0.371000	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					1			34		0	0	6.4e-05	0	0
FAM71A	149647	broad.mit.edu	37	1	212799484	212799484	+	RNA	SNP	A	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:212799484A>T	uc010pth.1	-	0		c.630T>A			FAM71A_uc001hjk.3_Missense_Mutation_p.E422V			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCTGCAAGGAGGGGAGGGAA	0.622000														35			16		0	0	0.000422831	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309797	22309797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:22309797G>A	uc001wbx.2	+	1	282	c.181G>A	c.(181-183)Gat>Aat	p.D61N	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		GTACAGACAGGATTGCAGGAA	0.468000														14			11		0	0	6.40141e-05	0	0
GLYAT	10249	broad.mit.edu	37	11	58477446	58477446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:58477446C>T	uc001nnb.3	-	5	839	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	228					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTGCCATTCTCATCTCTCCAG	0.552000														9			7		0	0	8.12818e-05	0	0
MYOF	26509	broad.mit.edu	37	10	95147624	95147625	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:95147624_95147625GT>AA	uc001kin.3	-	18	1750_1751	c.1627_1628AC>TT	c.(1627-1629)act>TTt	p.T543F	MYOF_uc001kio.3_Missense_Mutation_p.T530F	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	543					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCAAGAAAAGTGGCTAATTCA	0.426000														42			27		0	0	6.4e-05	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401205	17401205	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:17401205C>T	uc011kye.2	+	1	525	c.477C>T	c.(475-477)ctC>ctT	p.L159L	SLC7A2_uc011kyc.2_Silent_p.L119L|SLC7A2_uc011kyd.2_Silent_p.L159L	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	119					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTGGAATCTCATTTTATCGT	0.473000														37			42		0	0	0.000781405	0	0
RERGL	79785	broad.mit.edu	37	12	18234137	18234137	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:18234137C>T	uc001rdq.3	-	5	800	c.606G>A	c.(604-606)agG>agA	p.R202R		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	202	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AAACAGATTTCCTTCTCTTTC	0.333000														24			13		0	0	0.000219431	0	0
NOS3	4846	broad.mit.edu	37	7	150695478	150695478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:150695478G>A	uc003wif.3	+	5	912	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	NOS3_uc011kuy.2_5'UTR|NOS3_uc011kva.2_Missense_Mutation_p.E206K|NOS3_uc011kuz.2_Missense_Mutation_p.E206K|NOS3_uc011kvb.2_Missense_Mutation_p.E206K	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	206	Interaction with NOSIP.				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	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme 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)	GTCTGCACAGGAAATGTTCAC	0.617000														0			24		0	0	0.000147802	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884614	24884614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:24884614C>T	uc001wpf.4	+	8	3977	c.3659C>T	c.(3658-3660)tCc>tTc	p.S1220F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1220					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCATTTTTCCCGCTGCATT	0.637000														33			34		0	0	0.000491102	0	0
ZNF292	23036	broad.mit.edu	37	6	87965184	87965185	+	Missense_Mutation	DNP	CC	TT	TT	rs79715650		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:87965184_87965185CC>TT	uc003plm.4	+	7	1878_1879	c.1837_1838CC>TT	c.(1837-1839)cca>TTa	p.P613L		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGAAGGCCTCCAAAGATCACA	0.361000														0			14		0	0	6.4e-05	0	0
GPR98	84059	broad.mit.edu	37	5	89992813	89992813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:89992813G>A	uc003kju.3	+	33	8101	c.8005G>A	c.(8005-8007)Gaa>Aaa	p.E2669K	GPR98_uc003kjt.3_Missense_Mutation_p.E375K|GPR98_uc003kjv.3_Missense_Mutation_p.E269K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2669	Calx-beta 18.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAGGATGACGAAAGTATCAT	0.373000														24			5		0	0	0.000602214	0	0
COL11A2	1302	broad.mit.edu	37	6	33148473	33148473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:33148473G>A	uc003ocx.1	-	10	1484	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.P333L|COL11A2_uc003ocz.1_Missense_Mutation_p.P312L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	419	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AACTGGGCCTGGGTTCCCCTG	0.612000														21			19		0	0	0.000132079	0	0
OR6N1	128372	broad.mit.edu	37	1	158735546	158735546	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:158735546C>T	uc010piq.2	-	0	927	c.927G>A	c.(925-927)ggG>ggA	p.G309G		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATGCCAATATCCCAATTCTCT	0.532000														35			25		0	0	0.000147802	0	0
DPYSL2	1808	broad.mit.edu	37	8	26441409	26441409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:26441409C>T	uc003xfb.2	+	2	654	c.223C>T	c.(223-225)Cgt>Tgt	p.R75C	DPYSL2_uc003xfa.3_Missense_Mutation_p.R180C|DPYSL2_uc011lag.2_Missense_Mutation_p.R75C|DPYSL2_uc011lah.2_Missense_Mutation_p.R39C	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	75					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CGTCCACACTCGTTTCCAGAT	0.522000														75			52		0	0	0.000781405	0	0
ELMO1	9844	broad.mit.edu	37	7	36917633	36917633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:36917633C>T	uc022abv.1	-	18	2514	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	ELMO1_uc003tfi.2_Missense_Mutation_p.D122N|ELMO1_uc003tfj.2_Missense_Mutation_p.D122N|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Missense_Mutation_p.D506N|ELMO1_uc003tfk.2_Missense_Mutation_p.D602N|ELMO1_uc010kxg.2_Missense_Mutation_p.D602N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	602	PH.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGCAAGGAATCGTGGGGCACT	0.473000														24			33		0	0	0.00058488	0	0
MECOM	2122	broad.mit.edu	37	3	168810878	168810878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:168810878G>A	uc011bpj.1	-	13	3435	c.3032C>T	c.(3031-3033)tCg>tTg	p.S1011L	MECOM_uc010hwk.1_Missense_Mutation_p.S837L|MECOM_uc003ffj.3_Missense_Mutation_p.S888L|MECOM_uc003ffi.3_Missense_Mutation_p.S823L|MECOM_uc011bpi.1_Missense_Mutation_p.S815L|MECOM_uc003ffn.3_Missense_Mutation_p.S823L|MECOM_uc003ffk.2_Missense_Mutation_p.S814L|MECOM_uc003ffl.2_Missense_Mutation_p.S974L|MECOM_uc011bpk.1_Missense_Mutation_p.S823L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGAGGCGACGATGTTGCTGT	0.388000														20			7		0	0	0.000274275	0	0
OR10C1	442194	broad.mit.edu	37	6	29408418	29408418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:29408418C>T	uc011dlp.2	+	0	703	c.626C>T	c.(625-627)cCc>cTc	p.P209L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C208R(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCCTCTGCCCCTTTGGCCTC	0.582000														154			126		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13919390	13919390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:13919390C>T	uc003jfd.2	-	6	912	c.870G>A	c.(868-870)tgG>tgA	p.W290*	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	290	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W290*(1)		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)					GTCTTTTTTTCCAGTGCTCCA	0.527000									Kartagener syndrome					80			263		0	0	0.000781405	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286808	55286808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:55286808G>A	uc010erz.1	+	3	600	c.562G>A	c.(562-564)Ggc>Agc	p.G188S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G188S	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	188	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTTTCCTCTGGGCCCTGCCAC	0.557000														3			65		0	0	0.000781405	0	0
KIF13A	63971	broad.mit.edu	37	6	17796972	17796973	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:17796972_17796973CG>AT	uc003ncg.4	-	22	3029_3030	c.2869_2870CG>AT	c.(2869-2871)cgg>ATg	p.R957M	KIF13A_uc003ncf.3_Missense_Mutation_p.R957M|KIF13A_uc003nch.4_Missense_Mutation_p.R957M|KIF13A_uc003nci.4_Missense_Mutation_p.R957M	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	957					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCCAGCACACCGGTGGCCCCAT	0.480000														210			9		0	0	6.4e-05	0	0
HTR1B	3351	broad.mit.edu	37	6	78172887	78172887	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:78172887C>T	uc003pil.1	-	0	234	c.234G>A	c.(232-234)cgG>cgA	p.R78R		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	78					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	p.T77T(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TGTGCAGTTTCCGGGTCCGGT	0.567000														4			80		0	0	0.000781405	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443967	61443967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:61443967C>T	uc010qig.1	-	1	532	c.83G>A	c.(82-84)gGa>gAa	p.G28E		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	28					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAGTGGGGATCCGTAACACAA	0.473000														31			24		0	0	0.000586117	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395818	47395818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:47395818G>A	uc001cqp.4	-	11	1580	c.1529C>T	c.(1528-1530)cCt>cTt	p.P510L		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	510			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACAAGGGTTAGGGAGCCTCCT	0.567000														22			7		0	0	0.000442599	0	0
HCN4	10021	broad.mit.edu	37	15	73622119	73622119	+	Missense_Mutation	SNP	C	T	T	rs146714274		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:73622119C>T	uc002avp.3	-	3	2379	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	462					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTACTGCTTCCCCCAGGAGTT	0.622000														17			11		0	0	0.00010058	0	0
MLIP	90523	broad.mit.edu	37	6	54095550	54095550	+	Silent	SNP	T	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:54095550T>A	uc011dxa.2	+	11	2790	c.2757T>A	c.(2755-2757)ccT>ccA	p.P919P	MLIP_uc003pcg.4_Silent_p.P384P|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	384						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CGCTCCATCCTTTATATCAGA	0.488000														294			199		0	0	0.000781405	0	0
PSME3	10197	broad.mit.edu	37	17	40990768	40990768	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:40990768C>T	uc002ibq.3	+	6	691	c.465C>T	c.(463-465)ctC>ctT	p.L155L	PSME3_uc002ibp.3_Silent_p.L81L|PSME3_uc002ibr.3_Silent_p.L142L|PSME3_uc002ibs.3_Silent_p.L153L|PSME3_uc010whd.2_Silent_p.L29L	NM_176863	NP_789839	P61289	PSME3_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA.	142					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction	cytoplasm|nucleus|proteasome activator complex	MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGTACAGCTCCTGATTCCCA	0.458000														64			61		0	0	0.000781405	0	0
NCAN	1463	broad.mit.edu	37	19	19339337	19339337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:19339337G>A	uc002nlz.3	+	7	3007	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	NCAN_uc010ecc.1_Missense_Mutation_p.E534K	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	970					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAGGACTTCGAACTGGAGGT	0.642000														39			56		0	0	0.000781405	0	0
ATP13A3	79572	broad.mit.edu	37	3	194177885	194177885	+	Silent	SNP	A	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:194177885A>T	uc003fty.4	-	5	900	c.498T>A	c.(496-498)gtT>gtA	p.V166V		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	166					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACGTACAAGAAACACCTTCAT	0.328000														41			25		0	0	0.000586117	0	0
COL27A1	85301	broad.mit.edu	37	9	116956705	116956705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:116956705C>T	uc011lxl.2	+	5	2038	c.2038C>T	c.(2038-2040)Ctc>Ttc	p.L680F	COL27A1_uc004bii.3_Intron|COL27A1_uc010mvd.2_Intron	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	680	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						GGACCCAGGGCTCTCACCAGG	0.517000														97			25		0	0	0.000279167	0	0
TMC2	117532	broad.mit.edu	37	20	2604977	2604977	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:2604977C>T	uc002wgf.1	+	16	2256	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	TMC2_uc002wgg.1_Silent_p.F731F	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	747						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCCAACCTTCCTGGGCAAGA	0.498000														38			41		0	0	0.000680045	0	0
MEFV	4210	broad.mit.edu	37	16	3306433	3306433	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:3306433T>C	uc002cun.1	-	0	195	c.155A>G	c.(154-156)aAg>aGg	p.K52R	MEFV_uc021tbw.1_Missense_Mutation_p.K52R|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	52	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AGTGGCCATCTTCACCGGCCT	0.602000														51			51		0	0	0.000781405	0	0
IP6K3	117283	broad.mit.edu	37	6	33690601	33690602	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:33690601_33690602CC>AA	uc010jvf.2	-	6	1664_1665	c.1128_1129GG>TT	c.(1126-1131)aagggc>aaTTgc	p.376_377KG>NC	IP6K3_uc003ofb.2_Missense_Mutation_p.376_377KG>NC	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	376					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TTCCAGTAGCCCTTGTATGTGG	0.545000														272			10		0	0	6.4e-05	0	0
ITPR1	3708	broad.mit.edu	37	3	4715049	4715049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:4715049C>T	uc003bqc.3	+	19	2739	c.2389C>T	c.(2389-2391)Ccc>Tcc	p.P797S	ITPR1_uc021wsi.1_Missense_Mutation_p.P812S|ITPR1_uc021wsj.1_Missense_Mutation_p.P797S|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	812					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTCGGAGATTCCCTCGGAGAT	0.537000														72			59		0	0	0.000781405	0	0
CNOT1	23019	broad.mit.edu	37	16	58583759	58583759	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:58583759C>T	uc002env.3	-	24	3679	c.3386G>A	c.(3385-3387)tGg>tAg	p.W1129*	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Nonsense_Mutation_p.W1124*|CNOT1_uc002enx.3_Nonsense_Mutation_p.W1129*|CNOT1_uc002enz.1_Nonsense_Mutation_p.W558*|CNOT1_uc010vik.2_Nonsense_Mutation_p.W125*|SNORA46_uc002eny.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1129					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGTGAAACCCAAGGCATAAA	0.388000														39			26		0	0	0.000279167	0	0
ASMTL	8623	broad.mit.edu	37	X	1546780	1546780	+	Silent	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:1546780G>A	uc004cpx.2	-	6	881	c.744C>T	c.(742-744)ccC>ccT	p.P248P	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Silent_p.P232P|ASMTL_uc011mhe.2_Silent_p.P172P|ASMTL_uc011mhf.2_Silent_p.P190P	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	248					melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCTCTGAGTGGGCTCCGAGC	0.706000														46			45		0	0	0.000781405	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972313	43972313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:43972313C>T	uc003bdy.2	-	25	3598	c.3284G>A	c.(3283-3285)gGa>gAa	p.G1095E	EFCAB6_uc003bdz.2_Missense_Mutation_p.G943E|EFCAB6_uc010gzi.2_Missense_Mutation_p.G943E|EFCAB6_uc010gzj.1_Missense_Mutation_p.G321E	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1095	EF-hand 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAGAACTTGTCCGAATTCTGT	0.323000														83			49		0	0	0.000781405	0	0
S1PR1	1901	broad.mit.edu	37	1	101705604	101705604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:101705604C>T	uc021oqt.1	+	0	1064	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	S1PR1_uc001dud.2_Missense_Mutation_p.S355L|S1PR1_uc009weg.2_Missense_Mutation_p.S355L	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	355					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGCAGCAAATCGGACAATTCC	0.537000														15			42		0	0	0.000509022	0	0
C10orf71	118461	broad.mit.edu	37	10	50531317	50531317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:50531317G>A	uc021pqb.1	+	0	727	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	C10orf71_uc021pqa.1_Missense_Mutation_p.A242T|C10orf71_uc021pqc.1_Missense_Mutation_p.A243T	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	243										endometrium(1)	1						CAATGACACGGCCACCTTATG	0.562000														6			5		0	0	3.59834e-05	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431406	140431406	+	Silent	SNP	C	T	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:140431406C>T	uc003lik.1	+	0	428	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	117	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTCCTTCCGGGCCGAGG	0.512000														17			9		0	0	0.000274275	0	0
INADL	10207	broad.mit.edu	37	1	62235086	62235088	+	In_Frame_Del	DEL	AGC	-	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:62235086_62235088delAGC	uc001dab.3	+	4	630_632	c.516_518delAGC	c.(514-519)gtagca>gta	p.A173del	INADL_uc009waf.1_In_Frame_Del_p.A173del|INADL_uc001daa.2_In_Frame_Del_p.A173del|INADL_uc001dad.3_5'Flank	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	173	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGGGAGTGTAGCAGACAGGTGA	0.399													---	115	---	---	23	---					
GPR88	54112	broad.mit.edu	37	1	101004847	101004847	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:101004847delG	uc021oqq.1	+	0	325	c.325delG	c.(325-327)gggfs	p.G109fs	GPR88_uc001dth.3_Frame_Shift_Del_p.G109fs	NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	Homo sapiens G protein-coupled receptor 88 (GPR88), mRNA.	109						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GGACGGCGCTGGGGGCAGCTA	0.726													---	4	---	---	2	---					
SLC45A3	85414	broad.mit.edu	37	1	205633709	205633713	+	Frame_Shift_Del	DEL	AGGTT	-	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:205633709_205633713delAGGTT	uc001hda.1	-	1	411_415	c.72_76delAACCT	c.(70-78)ctaacctttfs	p.L24fs	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'Flank|SLC45A3_uc010prp.1_Non-coding_Transcript|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	24					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCAGGCCAAAGGTTAGCAGGTTGA	0.629			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								---	126	---	---	61	---					
CP	1356	broad.mit.edu	37	3	148901328	148901329	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:148901328_148901329delAC	uc003ewy.4	-	12	2602_2603	c.2349_2350delGT	c.(2347-2352)gtgtatfs	p.V783fs	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Frame_Shift_Del_p.V564fs|CP_uc003ewz.3_Frame_Shift_Del_p.V783fs	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	783	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TACTGCCGATACACAACTTTCT	0.342													---	36	---	---	47	---					
TMPRSS11B	132724	broad.mit.edu	37	4	69095137	69095137	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:69095137delA	uc003hdw.4	-	7	920	c.784delT	c.(784-786)tatfs	p.Y262fs		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	262	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGACTGCTATAATTTTCATGA	0.343													---	46	---	---	16	---					
CSMD3	114788	broad.mit.edu	37	8	113662425	113662425	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:113662425delT	uc003ynu.3	-	18	3317	c.3158delA	c.(3157-3159)aacfs	p.N1053fs	CSMD3_uc003yns.3_Frame_Shift_Del_p.N325fs|CSMD3_uc003ynt.3_Frame_Shift_Del_p.N1013fs|CSMD3_uc011lhx.2_Frame_Shift_Del_p.N949fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1053	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCACCAGTGGTTTTTTTCGCA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	205	---	---	7	---					
GRB2	2885	broad.mit.edu	37	17	73389691	73389691	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:73389691delA	uc002jnx.4	-	1	377	c.19delT	c.(19-21)tatfs	p.Y7fs	GRB2_uc002jny.4_Frame_Shift_Del_p.Y7fs	NM_002086	NP_002077	P62993	GRB2_HUMAN	Homo sapiens growth factor receptor-bound protein 2 (GRB2), transcript variant 1, mRNA.	7	SH3 1.				Ras protein signal transduction|T cell costimulation|axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|receptor internalization|signal transduction in response to DNA damage	Golgi apparatus|cytosol	SH3/SH2 adaptor activity|epidermal growth factor receptor binding|insulin receptor substrate binding			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTGAAGTCATATTTGGCGATG	0.562													---	138	---	---	91	---