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
C1orf173	127254	broad.mit.edu	37	1	75107096	75107096	+	Silent	SNP	A	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:75107096A>G	uc001dgg.3	-	4	582	c.363T>C	c.(361-363)tcT>tcC	p.S121S		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	121										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGGGTGGGGAGACAGGATTG	0.418000														94			4		0	0	0.009096	0	0
LIG1	3978	broad.mit.edu	37	19	48640919	48640919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:48640919C>T	uc002pia.1	-	12	1234	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	LIG1_uc010xze.1_Missense_Mutation_p.E65K|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.E304K|LIG1_uc010xzg.1_Missense_Mutation_p.E341K|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	372					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCGGCTGCCTCAGCCCGGACG	0.687000								Nucleotide excision repair (NER)						35			4		0	0	0.009096	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349556	103349557	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:103349556_103349557CC>TT	uc022cbz.1	-	0	384_385	c.384_385GG>AA	c.(382-387)gaggcc>gaAAcc	p.A129T	SLC25A53_uc004elu.3_Missense_Mutation_p.A129T	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	129					transport	integral to membrane|mitochondrial inner membrane											AGTGCCACGGCCTCCACCACGC	0.574000														68			24		0	0	0.115264	0	0
UBTF	7343	broad.mit.edu	37	17	42290269	42290269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:42290269G>A	uc010czs.3	-	6	874	c.578C>T	c.(577-579)tCg>tTg	p.S193L	UBTF_uc002igc.3_Missense_Mutation_p.S193L|UBTF_uc002igd.3_Missense_Mutation_p.S193L|UBTF_uc010czt.3_Missense_Mutation_p.S193L|UBTF_uc002ige.2_Missense_Mutation_p.S193L	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	193					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGGATGTCCGATTTCTTGGC	0.587000														170			25		0	0	0.125774	0	0
KCNH4	23415	broad.mit.edu	37	17	40328133	40328133	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:40328133G>A	uc002hzb.2	-	4	1101	c.768C>T	c.(766-768)acC>acT	p.T256T		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	256					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AAGTGATGGGGGTGTCATCGT	0.592000														130			22		0	0	0.076483	0	0
ANKRD29	147463	broad.mit.edu	37	18	21181252	21181252	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:21181252G>A	uc002kun.3	-	9	999	c.844C>T	c.(844-846)Cta>Tta	p.L282L	ANKRD29_uc002kuo.3_Silent_p.L249L	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	282										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTTTTGGTTAGTTCTGCCGGA	0.433000														51			8		0	0	0.047766	0	0
CNDP2	55748	broad.mit.edu	37	18	72186305	72186305	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:72186305C>T	uc002llm.2	+	10	1591	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	CNDP2_uc002lln.2_Silent_p.A360A	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	444						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGACGGAGCCCACTCCCAGA	0.632000														46			8		0	0	0.038147	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:14513675T>C	uc010dln.3	-	9	1973	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	507								p.K507E(4)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000														107			3		0	0	0.009096	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572328	186572328	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:186572328G>A	uc010hyy.3	+	3	705	c.570G>A	c.(568-570)caG>caA	p.Q190Q	ADIPOQ_uc003fra.3_Silent_p.Q190Q	NM_001177800	NP_004788	Q15848	ADIPO_HUMAN	Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA.	190	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		ATCAGTACCAGGAAAATAATG	0.512000														83			12		0	0	0.093190	0	0
ARID2	196528	broad.mit.edu	37	12	46243878	46243878	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:46243878C>T	uc001ros.1	+	14	1972	c.1972C>T	c.(1972-1974)Caa>Taa	p.Q658*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q658*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q114*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q285*|ARID2_uc001rou.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	658					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGTTGCCAACCAATCTTCAAA	0.383000			"""N, S, F"""		hepatocellular carcinoma									123			13		0	0	0.132662	0	0
RP1	6101	broad.mit.edu	37	8	55538745	55538745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:55538745C>T	uc003xsd.1	+	3	2451	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	768					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S768F(2)|p.S768C(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTCAAAATTCCAAGGTTCAA	0.289000														24			5		0	0	0.029380	0	0
C4orf37	285555	broad.mit.edu	37	4	98762037	98762037	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:98762037A>G	uc003htt.2	-	8	1181	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	364										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		AACTTGGGACATCTCATATGA	0.358000														75			5		0	0	0.029380	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128799	20128800	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:20128799_20128800CC>TT	uc002zrr.2	+	7	1061_1062	c.954_955CC>TT	c.(952-957)cccccc>ccTTcc	p.P319S	ZDHHC8_uc002zrq.3_Missense_Mutation_p.P319S|ZDHHC8_uc010gsa.3_Missense_Mutation_p.P125S	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	319						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CACCACTGCCCCCCAAGATAGA	0.649000														36			5		0	0	0.115264	0	0
CSMD2	114784	broad.mit.edu	37	1	34401498	34401498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:34401498C>T	uc001bxm.1	-	3	752	c.575G>A	c.(574-576)gGt>gAt	p.G192D	CSMD2_uc001bxn.1_Missense_Mutation_p.G152D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	152	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAGGTTGAACCCTGCTGGAT	0.602000														103			20		0	0	0.062417	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117232	46117233	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr21:46117232_46117233CC>TT	uc002zfw.1	+	0	146_147	c.116_117CC>TT	c.(115-117)ccc>cTT	p.P39L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	39	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TGCTGTGAGCCCCCCTGCTGCG	0.683000														119			18		0	0	0.115264	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76619638	76619638	+	RNA	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:76619638G>A	uc011kgn.1	+	1		c.492G>A			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CCCTGCCACTGTGCCCATGCA	0.642000														49			4		0	0	0.038147	0	0
ACSM1	116285	broad.mit.edu	37	16	20634851	20634851	+	Missense_Mutation	SNP	A	G	G	rs142695037	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:20634851A>G	uc002dhm.1	-	12	1759	c.1691T>C	c.(1690-1692)aTt>aCt	p.I564T	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.I564T	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	564					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						CTTCCGTTCAATCTTGCCAGT	0.473000														99			3		0	0	0.115264	0	0
CCDC121	79635	broad.mit.edu	37	2	27849834	27849834	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:27849834T>G	uc002rld.3	-	1	1434	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	ZNF512_uc010yly.1_Intron|CCDC121_uc002rle.3_Missense_Mutation_p.K278T|CCDC121_uc021vfe.1_Missense_Mutation_p.K278T|GPN1_uc010ezf.3_5'Flank|GPN1_uc010yma.2_5'Flank|GPN1_uc010ymb.2_5'Flank|GPN1_uc010ymd.2_5'Flank|GPN1_uc010ymc.2_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_001142683	NP_078860	Q6ZUS5	CC121_HUMAN	Homo sapiens coiled-coil domain containing 121 (CCDC121), transcript variant 2, mRNA.	278										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TAGAAGTTACTTTGGATTAAT	0.398000														135			14		0	0	0.119110	0	0
PTPRF	5792	broad.mit.edu	37	1	44070930	44070931	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:44070930_44070931CC>GT	uc001cjr.3	+	17	3545_3546	c.3205_3206CC>GT	c.(3205-3207)ccc>GTc	p.P1069V	PTPRF_uc001cjs.3_Missense_Mutation_p.P1060V|PTPRF_uc001cju.3_Missense_Mutation_p.P447V|PTPRF_uc009vwt.3_Missense_Mutation_p.P629V|PTPRF_uc001cjv.3_Missense_Mutation_p.P529V|PTPRF_uc001cjw.3_Missense_Mutation_p.P295V	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1069	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGACCTGCAGCCCAACACAGAG	0.624000														104			14		0	0	0.115264	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711304	155711304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:155711304C>T	uc002tyv.1	+	2	1180	c.985C>T	c.(985-987)Cct>Tct	p.P329S	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	329					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCGTTTTTTTCCTGTAATTTC	0.388000														52			4		0	0	0.009096	0	0
GAS2	2620	broad.mit.edu	37	11	22777399	22777399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:22777399G>A	uc009yie.3	+	6	929	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GAS2_uc001mqm.3_Missense_Mutation_p.R208Q|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.R208Q	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	208	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		p.R208Q(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CAGGTGAAACGAATTTCTGAA	0.448000														31			5		0	0	0.021553	0	0
USP11	8237	broad.mit.edu	37	X	47101088	47101088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:47101088G>A	uc004dhp.3	+	8	1298	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	USP11_uc004dhq.3_Missense_Mutation_p.R160Q	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	433					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GCTGCTGGGCGACCGGATCAG	0.577000														17			3		0	0	0.009096	0	0
SFXN4	119559	broad.mit.edu	37	10	120907304	120907304	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:120907304G>T	uc001leb.3	-	11	846	c.801C>A	c.(799-801)ttC>ttA	p.F267L	SFXN4_uc001ldy.3_Missense_Mutation_p.F151L|SFXN4_uc001lea.3_Non-coding_Transcript	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	Homo sapiens sideroflexin 4 (SFXN4), mRNA.	267					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AAAAGTAGGTGAAGACTTCAG	0.423000														75			22		1.2476e-16	1.29191e-16	0.116897	1	0
UBA3	9039	broad.mit.edu	37	3	69127023	69127023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:69127023G>A	uc003dno.3	-	2	129	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	UBA3_uc003dnq.3_Missense_Mutation_p.R23C|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_5'UTR	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	37					protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TGGTTCCAGCGACCTTCCCAG	0.458000														195			39		0	0	0.131918	0	0
GNAI3	2773	broad.mit.edu	37	1	110125063	110125063	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:110125063C>T	uc001dxz.2	+	4	623	c.466C>T	c.(466-468)Cta>Tta	p.L156L		NM_006496	NP_006487	P08754	GNAI3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), mRNA.	156					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ATTTAGTTATCTAAATGATCT	0.358000														75			10		0	0	0.058154	0	0
MBD5	55777	broad.mit.edu	37	2	149227047	149227048	+	Missense_Mutation	DNP	CC	TT	TT	rs147908860		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:149227047_149227048CC>TT	uc002twm.4	+	8	2532_2533	c.1535_1536CC>TT	c.(1534-1536)tcc>tTT	p.S512F	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	512						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCTACCAAGTCCGATGGACATC	0.475000														59			5		0	0	0.115264	0	0
RELN	5649	broad.mit.edu	37	7	103141356	103141356	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:103141356T>C	uc022ajr.1	-	52	8663	c.8503A>G	c.(8503-8505)Agg>Ggg	p.R2835G	RELN_uc022ajq.1_Missense_Mutation_p.R2835G|RELN_uc010liz.3_Missense_Mutation_p.R2835G	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2835					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGATAGAACCTAAACCTTACC	0.433000														129			17		0	0	0.043863	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:22382594G>A	uc001yuc.1	+	6	1103	c.122G>A	c.(121-123)gGa>gAa	p.G41E	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		ATCCTCCCTGGAAATTTTCTC	0.443000														246			21		0	0	0.083992	0	0
KIF27	55582	broad.mit.edu	37	9	86474171	86474171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:86474171G>A	uc004ana.3	-	13	3194	c.3050C>T	c.(3049-3051)tCa>tTa	p.S1017L	KIF27_uc010mpw.3_Missense_Mutation_p.S951L|KIF27_uc010mpx.3_Missense_Mutation_p.S920L	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1017					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AACTTGTTCTGAAATCTTTGT	0.398000														103			18		0	0	0.043863	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239964	5239964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:5239964G>A	uc003jdl.3	+	15	2587	c.2449G>A	c.(2449-2451)Gac>Aac	p.D817N	ADAMTS16_uc003jdk.1_Missense_Mutation_p.D817N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	817	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D817N(6)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACTACTTTCGACTACAGACG	0.517000														110			15		0	0	0.119110	0	0
ABCA3	21	broad.mit.edu	37	16	2373618	2373618	+	Silent	SNP	C	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:2373618C>G	uc002cpy.1	-	6	1231	c.519G>C	c.(517-519)ctG>ctC	p.L173L	ABCA3_uc010bsk.1_Silent_p.L173L|ABCA3_uc010bsl.1_Silent_p.L173L|ABCA3_uc002cpz.1_Silent_p.L173L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	173					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F172F(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTGTCTCTTTCAGGAAAAAGG	0.488000														405			6		0	0	0.029380	0	0
SERPINA3	12	broad.mit.edu	37	14	95088720	95088721	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:95088720_95088721GG>AA	uc001ydp.3	+	3	1119_1120	c.960_961GG>AA	c.(958-963)agggac>agAAac	p.D321N	SERPINA3_uc001ydo.4_Missense_Mutation_p.D346N|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.D321N|SERPINA3_uc001yds.3_Missense_Mutation_p.D321N	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	321					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCATCTCGAGGGACTATAACCT	0.495000														73			14		0	0	0.115264	0	0
MTUS2	23281	broad.mit.edu	37	13	29599397	29599397	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:29599397G>T	uc001usl.4	+	0	650	c.592G>T	c.(592-594)Ggg>Tgg	p.G198W		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	188						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.G198R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCTGCAGTCGGGAGCCTGAC	0.582000														54			6		2.7689e-08	2.85943e-08	0.029380	1	0
AIM1L	55057	broad.mit.edu	37	1	26672138	26672138	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:26672138G>A	uc001bmd.4	-	1	1161	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 7.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGAGCTCAGTGGAACTGGGGG	0.632000														21			3		0	0	0.115264	0	0
VSIG2	23584	broad.mit.edu	37	11	124618311	124618311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:124618311C>T	uc001qas.3	-	5	902	c.826G>A	c.(826-828)Gag>Aag	p.E276K	VSIG2_uc001qat.3_Missense_Mutation_p.E276K	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	276						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		CCATATGTCTCCTTGGGCTTC	0.612000														116			20		0	0	0.099896	0	0
MYT1L	23040	broad.mit.edu	37	2	1906872	1906873	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:1906872_1906873GA>AT	uc002qxe.3	-	13	2838_2839	c.2011_2012TC>AT	c.(2011-2013)tcc>ATc	p.S671I	MYT1L_uc002qxd.3_Missense_Mutation_p.S669I|MYT1L_uc010ewl.2_Intron	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	671					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCTTTGGGGGATATATCCCTG	0.431000														80			6		0	0	0.115264	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571882	47571882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:47571882C>T	uc001cqu.1	+	8	1153	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	384						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AAACATATCCCGGTTACTCGA	0.478000														90			16		0	0	0.049695	0	0
TMEM88	92162	broad.mit.edu	37	17	7758414	7758414	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:7758414C>G	uc002giy.3	+	0	31	c.22C>G	c.(22-24)Cag>Gag	p.Q8E	CYB5D1_uc002gjb.4_5'Flank	NM_203411	NP_981956	Q6PEY1	TMM88_HUMAN	Homo sapiens transmembrane protein 88 (TMEM88), mRNA.	8						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				CCCCGGGGCACAGCGAGCGGT	0.701000														31			5		0	0	0.021553	0	0
MTMR3	8897	broad.mit.edu	37	22	30403950	30403950	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:30403950T>G	uc003agv.4	+	10	1266	c.938T>G	c.(937-939)tTg>tGg	p.L313W	MTMR3_uc003agu.4_Missense_Mutation_p.L313W|MTMR3_uc003agw.4_Missense_Mutation_p.L313W	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	313	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CAGAAGCTTTTGATCTTGGAT	0.517000														37			5		0	0	0.021553	0	0
DNAH8	1769	broad.mit.edu	37	6	38980272	38980272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:38980272C>T	uc021yzh.1	+	90	13682	c.13573C>T	c.(13573-13575)Ctc>Ttc	p.L4525F	DNAH8_uc003ooe.2_Missense_Mutation_p.L4308F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATACCTCAGCTCTGGAAAAG	0.408000														77			18		0	0	0.049695	0	0
EDC3	80153	broad.mit.edu	37	15	74963798	74963798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:74963798G>A	uc002ayn.3	-	5	970	c.482C>T	c.(481-483)tCc>tTc	p.S161F	EDC3_uc002ayo.3_Missense_Mutation_p.S161F|EDC3_uc002aym.3_Missense_Mutation_p.S161F	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	161					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTACTTACAGGAGTTGTGCCG	0.458000														78			13		0	0	0.146539	0	0
GFRA3	2676	broad.mit.edu	37	5	137600085	137600086	+	Missense_Mutation	DNP	CC	TT	TT	rs143061950	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:137600085_137600086CC>TT	uc003lcn.3	-	1	383_384	c.243_244GG>AA	c.(241-246)tcggtc>tcAAtc	p.V82I	GFRA3_uc003lco.3_Missense_Mutation_p.V82I	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	82					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAGCAGGGACCGAAGGCTCCT	0.604000														53			8		0	0	0.115264	0	0
SLC6A11	6538	broad.mit.edu	37	3	10967784	10967784	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:10967784C>T	uc003bvz.3	+	8	1249	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	405					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)		TGCTCATCTTCCTGGGCCTGG	0.657000														171			17		0	0	0.043863	0	0
DDX11	1663	broad.mit.edu	37	12	31249577	31249577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:31249577G>A	uc001rjt.1	+	15	1779	c.1528G>A	c.(1528-1530)Gga>Aga	p.G510R	DDX11_uc001rjr.1_Missense_Mutation_p.G510R|DDX11_uc001rjs.1_Missense_Mutation_p.G510R|DDX11_uc001rju.1_Missense_Mutation_p.G188R|DDX11_uc001rjv.1_Missense_Mutation_p.G510R|DDX11_uc001rjw.1_Missense_Mutation_p.G484R|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	510					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGCTCTTTGGATTCACTGA	0.592000										Multiple Myeloma(12;0.14)				57			9		0	0	0.058154	0	0
AURKAIP1	54998	broad.mit.edu	37	1	1309541	1309541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:1309541C>T	uc001afb.1	-	1	447	c.337G>A	c.(337-339)Gag>Aag	p.E113K	AURKAIP1_uc001afc.2_Missense_Mutation_p.E113K|AURKAIP1_uc009vkb.1_Missense_Mutation_p.E113K|AURKAIP1_uc001afd.2_Missense_Mutation_p.E113K	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.	113					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCCCCTGCTCGGCCCCTTCC	0.627000														114			15		0	0	0.033300	0	0
LATS2	26524	broad.mit.edu	37	13	21562052	21562053	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:21562052_21562053GG>AA	uc009zzs.3	-	3	2231_2232	c.1866_1867CC>TT	c.(1864-1869)aaccgg>aaTTgg	p.R623W	LATS2_uc001unr.4_Missense_Mutation_p.R623W	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	623					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGCAGCCTCCGGTTAACCTTCT	0.475000														128			23		0	0	0.115264	0	0
LATS1	9113	broad.mit.edu	37	6	150005366	150005367	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:150005366_150005367GG>AA	uc003qmu.1	-	3	1406_1407	c.858_859CC>TT	c.(856-861)tcccga>tcTTga	p.R287*	LATS1_uc010kif.1_Nonsense_Mutation_p.R182*|LATS1_uc003qmv.2_Nonsense_Mutation_p.R287*|LATS1_uc003qmw.3_Nonsense_Mutation_p.R287*|LATS1_uc010kig.1_Nonsense_Mutation_p.R182*	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	287					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGAGAGATTCGGGAGATTACGT	0.530000														120			7		0	0	0.115264	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212533979	212533979	+	Splice_Site	SNP	G	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:212533979G>C	uc001hjb.3	+	13	1903	c.1329_splice	c.e13-1	p.R443_splice	PPP2R5A_uc010ptd.2_Splice_Site_p.R386_splice	NM_006243	NP_006234	Q15172	2A5A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA.	443					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTTATCTACAGAGAGAAAAAG	0.338000														42			4		0	0	0.021553	0	0
AK098438	0	broad.mit.edu	37	1	21753556	21753556	+	RNA	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:21753556C>T	uc001bep.1	-	1		c.35G>A								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		CTTCTTGGTCCTTTTTAATTC	0.468000														81			4		0	0	0.014758	0	0
ZBED2	79413	broad.mit.edu	37	3	111312619	111312619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:111312619C>T	uc003dxy.3	-	1	1331	c.430G>A	c.(430-432)Gag>Aag	p.E144K	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E144K	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	144							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CCCACCTGCTCCAGGAGCCTA	0.627000														61			8		0	0	0.047766	0	0
TMCC2	9911	broad.mit.edu	37	1	205238204	205238205	+	Missense_Mutation	DNP	CT	AG	AG			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:205238204_205238205CT>AG	uc021pia.1	+	2	1529_1530	c.874_875CT>AG	c.(874-876)ctg>AGg	p.L292R	TMCC2_uc010prf.2_Missense_Mutation_p.L214R|TMCC2_uc001hca.3_Missense_Mutation_p.L67R|TMCC2_uc001hcb.2_Missense_Mutation_p.L52R|TMCC2_uc001hcc.2_5'UTR|TMCC2_uc001hcd.3_Missense_Mutation_p.L59R	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	292						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CATTGACCACCTGCACCAGAAG	0.634000														35			3		0	0	0.115264	0	0
PTAFR	5724	broad.mit.edu	37	1	28476798	28476798	+	Silent	SNP	G	A	A	rs144798109	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:28476798G>A	uc009vte.3	-	2	1070	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PTAFR_uc021ojz.1_Silent_p.F245F|PTAFR_uc001bpl.3_Silent_p.F245F|PTAFR_uc001bpm.4_Silent_p.F245F|PTAFR_uc021oka.1_Silent_p.F245F	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	245					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGGGCACGAAGCAGATGA	0.612000														39			11		0	0	0.093190	0	0
PRDM2	7799	broad.mit.edu	37	1	14106220	14106220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:14106220C>T	uc001avi.3	+	7	2786	c.1930C>T	c.(1930-1932)Cca>Tca	p.P644S	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P644S|PRDM2_uc021ogk.1_Missense_Mutation_p.P407S|PRDM2_uc001avk.3_Missense_Mutation_p.P443S|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	644						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AACTGCGAGCCCACCTGCACT	0.483000														25			7		0	0	0.029380	0	0
AHNAK	79026	broad.mit.edu	37	11	62298311	62298311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:62298311G>A	uc001ntl.3	-	4	3878	c.3578C>T	c.(3577-3579)cCc>cTc	p.P1193L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1193					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGAGATCTTGGGGGTCTTGAA	0.512000														317			38		0	0	0.098360	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696234	10696234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:10696234G>A	uc002kos.2	-	42	6863	c.6689C>T	c.(6688-6690)cCg>cTg	p.P2230L	PIEZO2_uc002koq.3_Missense_Mutation_p.P85L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2230						integral to membrane	ion channel activity										AAACGGCCCCGGGACCTGGTC	0.527000														64			8		0	0	0.058154	0	0
RBBP6	5930	broad.mit.edu	37	16	24578597	24578597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:24578597C>T	uc002dmh.3	+	14	2763	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	RBBP6_uc010vcb.1_Missense_Mutation_p.P442S|RBBP6_uc002dmi.3_Missense_Mutation_p.P575S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P442S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	575					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		acttcctctccctccgggtgt	0.577000														177			25		0	0	0.099896	0	0
MYOM3	127294	broad.mit.edu	37	1	24413146	24413146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:24413146G>A	uc001bin.4	-	14	1949	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	MYOM3_uc001bim.4_Missense_Mutation_p.R253W|MYOM3_uc001bio.3_Missense_Mutation_p.R596W|MYOM3_uc001bip.1_Missense_Mutation_p.R253W	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	596										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCGGGCCCCGCAAGGCGATG	0.632000														49			3		0	0	0.009096	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:20414379G>A	uc003zoe.2	-	4	724	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL									34			3		0	0	0.115264	0	0
ALAS2	212	broad.mit.edu	37	X	55051223	55051223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:55051223G>A	uc004dua.4	-	2	370	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	ALAS2_uc004dub.4_Nonsense_Mutation_p.Q102*|ALAS2_uc004dud.4_Nonsense_Mutation_p.Q78*	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TTCCCATCCTGGAGTTCCGAC	0.488000														51			10		0	0	0.080935	0	0
CARNS1	57571	broad.mit.edu	37	11	67187009	67187009	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:67187009C>T	uc001olc.4	+	3	2132	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	PPP1CA_uc001okx.1_Silent_p.Q63Q|CARNS1_uc010rpr.2_Silent_p.L302L|CARNS1_uc009yrp.3_Silent_p.L179L	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA.	179					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GGCATGGCGTCTGCACCCGCG	0.672000														13			4		0	0	0.014758	0	0
LENEP	55891	broad.mit.edu	37	1	154966129	154966129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:154966129C>T	uc021pak.1	+	0	46	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	LENEP_uc001fgi.3_Missense_Mutation_p.L16F	NM_018655	NP_061125	Q9Y5L5	LENEP_HUMAN	Homo sapiens lens epithelial protein (LENEP), mRNA.	16					multicellular organismal development		DNA binding			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCCTTCTTCCTCGGAGGGGC	0.612000														84			9		0	0	0.069234	0	0
TIGD3	220359	broad.mit.edu	37	11	65124093	65124093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:65124093G>A	uc021qlj.1	+	0	814	c.814G>A	c.(814-816)Gag>Aag	p.E272K	TIGD3_uc001odo.4_Missense_Mutation_p.E272K	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	272	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AGTGGTGGAGGAGCTGGCAGG	0.652000														76			14		0	0	0.119110	0	0
ERC2	26059	broad.mit.edu	37	3	55984490	55984490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:55984490C>T	uc021wzo.1	-	11	2506	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.R785Q|ERC2_uc003dht.1_Missense_Mutation_p.R268Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	789						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTGTCTTCTCGCCTGCGCAC	0.428000														45			3		0	0	0.115264	0	0
MACF1	23499	broad.mit.edu	37	1	39800890	39800890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:39800890C>T	uc021olw.1	+	0	3950	c.3950C>T	c.(3949-3951)tCc>tTc	p.S1317F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2882					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGGTAAATCCTTGGGCCAA	0.353000														81			15		0	0	0.038395	0	0
KDM4A	9682	broad.mit.edu	37	1	44134854	44134855	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:44134854_44134855CC>TT	uc001cjx.3	+	9	1413_1414	c.1247_1248CC>TT	c.(1246-1248)ccc>cTT	p.P416L	KDM4A_uc010oki.2_Missense_Mutation_p.P416L	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	416					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						GAGCTCTTCCCCAAGGAGGATC	0.579000														126			15		0	0	0.115264	0	0
MCM2	4171	broad.mit.edu	37	3	127325561	127325561	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:127325561C>T	uc003ejp.3	+	5	1059	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	MCM2_uc011bkm.2_Silent_p.F204F|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.F218F	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	334					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding	p.F334F(1)		ovary(3)|skin(2)|stomach(1)	6						AGTGCAATTTCGTCCTGGGTC	0.592000														112			15		0	0	0.043863	0	0
MMP2	4313	broad.mit.edu	37	16	55523723	55523723	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:55523723C>T	uc002ehz.4	+	6	1478	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	MMP2_uc010vhd.2_Silent_p.F313F|MMP2_uc010ccc.3_Silent_p.F339F	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.	389	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			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)	AGTGGGGCTTCTGCCCTGACC	0.572000														13			8		0	0	0.047766	0	0
SKIV2L	6499	broad.mit.edu	37	6	31933652	31933652	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:31933652C>T	uc003nyn.1	+	17	2453	c.2064C>T	c.(2062-2064)acC>acT	p.T688T	SKIV2L_uc011dou.1_Silent_p.T530T|SKIV2L_uc011dov.1_Silent_p.T495T	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	688	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ATGGCTCCACCTTCCGGGACC	0.607000														64			10		0	0	0.080935	0	0
abParts	0	broad.mit.edu	37	2	90121970	90121970	+	RNA	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:90121970G>A	uc010yts.2	+	28		c.3110G>A								Parts of antibodies, mostly variable regions.																		CAGAAACCAGGGAAAGTCCCT	0.512000														126			10		0	0	0.069234	0	0
JPH1	56704	broad.mit.edu	37	8	75157300	75157300	+	Missense_Mutation	SNP	G	A	A	rs138696789		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:75157300G>A	uc003yae.3	-	3	1409	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	JPH1_uc003yaf.3_Missense_Mutation_p.R457C|JPH1_uc003yag.1_Missense_Mutation_p.R321C	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	457					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGCCTTTGCGATAAAAATGA	0.493000														94			9		0	0	0.069234	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391953	117391953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:117391953C>T	uc001prh.1	-	5	1287	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	DSCAML1_uc001pri.1_Missense_Mutation_p.E233K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	369	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E429*(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCAGCGTCTCGTTGCTGAGC	0.642000														150			19		0	0	0.055883	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	A	A	rs115882083	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:4869718G>A	uc010qyo.2	-	0	721	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000														61			10		0	0	0.080935	0	0
THBS4	7060	broad.mit.edu	37	5	79351699	79351699	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:79351699C>T	uc021yaw.1	+	2	575	c.384C>T	c.(382-384)ctC>ctT	p.L128L		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	128	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACAGGATCCTCCTGAGGCTGA	0.577000														158			22		0	0	0.076483	0	0
CECR1	51816	broad.mit.edu	37	22	17690466	17690466	+	Silent	SNP	C	T	T	rs113192455		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:17690466C>T	uc002zmk.1	-	0	314	c.102G>A	c.(100-102)cgG>cgA	p.R34R	CECR1_uc010gqu.1_Silent_p.R34R|CECR1_uc011agi.1_5'UTR|CECR1_uc011agj.1_5'UTR	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	34	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ACAGATGCGCCCGTGTTTCAT	0.552000														46			8		0	0	0.038147	0	0
RBMX	27316	broad.mit.edu	37	X	135956422	135956422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:135956422G>A	uc004fae.2	-	8	1265	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.2_Missense_Mutation_p.S313F|RBMX_uc004faf.2_Missense_Mutation_p.S213F	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	352						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTTTCCATAGAAGGGGGAAG	0.557000														125			4		0	0	0.069288	0	0
SRMS	6725	broad.mit.edu	37	20	62174757	62174757	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:62174757C>T	uc002yfi.1	-	2	596	c.555G>A	c.(553-555)cgG>cgA	p.R185R		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	185	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGGGAAAGAGCCGTCCCTTCT	0.627000														66			11		0	0	0.105934	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	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.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.V600V(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)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					81			14		0	0	0.146539	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669516	131669516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:131669516G>A	uc004bwl.4	+	2	327	c.73G>A	c.(73-75)Gat>Aat	p.D25N	LRRC8A_uc010myp.3_Missense_Mutation_p.D25N|LRRC8A_uc010myq.3_Missense_Mutation_p.D25N	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	25					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCCGTGGTGGGATGTGTTCAC	0.542000														53			7		0	0	0.038147	0	0
SCN10A	6336	broad.mit.edu	37	3	38783809	38783809	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:38783809G>A	uc003ciq.3	-	12	2079	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	693					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)	GCATGGCTTCGAAGGTAGGGC	0.592000														59			5		0	0	0.014758	0	0
SLC34A1	6569	broad.mit.edu	37	5	176821167	176821168	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:176821167_176821168CC>TT	uc003mgk.4	+	9	1249_1250	c.1145_1146CC>TT	c.(1144-1146)gcc>gTT	p.A382V		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	382					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCAAGTGGCCAAGGTCATCC	0.589000														211			33		0	0	0.115264	0	0
C6orf118	168090	broad.mit.edu	37	6	165713883	165713883	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:165713883C>T	uc003qum.4	-	2	882	c.846G>A	c.(844-846)ttG>ttA	p.L282L	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	282										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CACCAAATATCAAAGAACTGT	0.403000														114			11		0	0	0.080935	0	0
CNTN3	5067	broad.mit.edu	37	3	74347318	74347318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:74347318C>T	uc003dpm.1	-	16	2271	c.2191G>A	c.(2191-2193)Ggt>Agt	p.G731S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	731	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAACCTTCACCATTCTGTAGT	0.468000														53			6		0	0	0.038147	0	0
RHAG	6005	broad.mit.edu	37	6	49604464	49604464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:49604464C>T	uc003ozk.4	-	0	124	c.62G>A	c.(61-63)gGa>gAa	p.G21E	RHAG_uc010jzl.3_Missense_Mutation_p.G21E|RHAG_uc010jzm.3_Missense_Mutation_p.G21E	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	21					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.G21G(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AACAAATAATCCAAATAAAAC	0.438000														132			18		0	0	0.049695	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103059315	103059315	+	Silent	SNP	A	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:103059315A>T	uc001phn.1	+	43	7374	c.7230A>T	c.(7228-7230)ggA>ggT	p.G2410G	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.G2410G	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2410	AAA 3 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGCTGGAGGAAGACTGGGAA	0.333000														50			5		0	0	0.014758	0	0
POLN	353497	broad.mit.edu	37	4	2181115	2181115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:2181115C>T	uc003ger.2	-	5	1111	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	POLN_uc010ich.1_Intron|POLN_uc011bvi.1_Missense_Mutation_p.D367N	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	367					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCTACTAAATCTTCAAAAGAG	0.358000								DNA polymerases (catalytic subunits)						57			5		0	0	0.021553	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401324	11401324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:11401324C>T	uc003gmq.3	-	1	629	c.306G>A	c.(304-306)tgG>tgA	p.W102*	HS3ST1_uc021xmg.1_Nonsense_Mutation_p.W102*	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	102						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGCTGAGGTACCAGCCCAAGC	0.622000														111			12		0	0	0.146539	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1706284	1706284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:1706284C>T	uc010uvh.2	+	8	1526	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	CRAMP1L_uc002cmf.3_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	509						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCGGACGCTCCTGACAGGCCT	0.697000														9			4		0	0	0.014758	0	0
NRP1	8829	broad.mit.edu	37	10	33469205	33469205	+	Silent	SNP	G	A	A	rs144845322		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:33469205G>A	uc001iwx.4	-	16	3094	c.2571C>T	c.(2569-2571)atC>atT	p.I857I	NRP1_uc001iwv.4_Silent_p.I840I|NRP1_uc001iwy.4_Silent_p.I850I|NRP1_uc009xlz.3_Silent_p.I851I|NRP1_uc001iww.4_Silent_p.I669I	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	857					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGGTGATGAGGATGGGGTCTA	0.532000														125			14		0	0	0.099896	0	0
RHOC	389	broad.mit.edu	37	1	113246331	113246331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:113246331G>A	uc001ecp.1	-	2	391	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	RHOC_uc001ecq.1_Missense_Mutation_p.P31S|RHOC_uc001ecr.1_Missense_Mutation_p.P31S|RHOC_uc009wgk.1_Missense_Mutation_p.P31S	NM_001042679	NP_786886	P08134	RHOC_HUMAN	Homo sapiens ras homolog gene family, member C (RHOC), transcript variant 3, mRNA.	31					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	p.P31P(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGACCTCCGGAAACTGATCC	0.557000														26			5		0	0	0.014758	0	0
USH2A	7399	broad.mit.edu	37	1	215847907	215847907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:215847907G>A	uc001hku.1	-	62	13733	c.13346C>T	c.(13345-13347)tCt>tTt	p.S4449F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4449	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAATGTTGGAGAGTCCATGTT	0.473000										HNSCC(13;0.011)				56			7		0	0	0.038147	0	0
GRIA4	2893	broad.mit.edu	37	11	105804641	105804641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:105804641G>A	uc001pix.2	+	13	2686	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	GRIA4_uc001piw.2_Missense_Mutation_p.G747E|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Non-coding_Transcript	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	747					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AAAGTGGGAGGAAATCTGGAT	0.438000														72			11		0	0	0.093190	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100496628	100496628	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:100496628T>A	uc001tgq.3	-	3	483	c.254A>T	c.(253-255)gAt>gTt	p.D85V	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.D85V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	85										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TATTACTTTATCCAGGGACTA	0.294000														41			7		0	0	0.029380	0	0
RFX7	64864	broad.mit.edu	37	15	56390316	56390316	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:56390316A>G	uc010bfn.3	-	7	1070	c.1070T>C	c.(1069-1071)aTt>aCt	p.I357T	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.I171T	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	260					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AACGATACCAATAGGTTGAGG	0.398000														53			3		0	0	0.115264	0	0
CD33	945	broad.mit.edu	37	19	51728677	51728677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:51728677G>A	uc002pwa.2	+	1	281	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	CD33_uc010eos.1_Missense_Mutation_p.E81K|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	81	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCTAGATCAAGAAGTACAGGA	0.537000														92			14		0	0	0.119110	0	0
ALMS1	7840	broad.mit.edu	37	2	73675893	73675894	+	Missense_Mutation	DNP	CC	TT	TT	rs140940799		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:73675893_73675894CC>TT	uc002sje.1	+	7	2347_2348	c.2236_2237CC>TT	c.(2236-2238)cct>TTt	p.P746F	ALMS1_uc002sjf.1_Missense_Mutation_p.P704F|ALMS1_uc002sjg.3_Missense_Mutation_p.P134F|ALMS1_uc002sjh.1_Missense_Mutation_p.P134F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	746	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.P746L(2)|p.T745T(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCAGCCACTCCTGGACCAGCT	0.441000														153			6		0	0	0.115264	0	0
TSHR	7253	broad.mit.edu	37	14	81610190	81610190	+	Silent	SNP	C	T	T	rs146917060		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:81610190C>T	uc001xvd.1	+	9	1944	c.1788C>T	c.(1786-1788)atC>atT	p.I596I		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	596					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCTTCGTCATCGTCTGCTGCT	0.478000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							200			32		0	0	0.080422	0	0
PRDM15	63977	broad.mit.edu	37	21	43291606	43291606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr21:43291606G>A	uc002yzq.1	-	3	649	c.538C>T	c.(538-540)Cct>Tct	p.P180S	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCCCACCAGGAGGTAGGGCA	0.582000														82			8		0	0	0.047766	0	0
HMCN1	83872	broad.mit.edu	37	1	185964144	185964144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:185964144G>A	uc001grq.1	+	23	3932	c.3703G>A	c.(3703-3705)Gat>Aat	p.D1235N		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1235	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACGCCCTCAGATGCTGGCAT	0.453000														102			15		0	0	0.146539	0	0
GPI	2821	broad.mit.edu	37	19	34859581	34859581	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:34859581C>T	uc002nvf.3	+	4	663	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	GPI_uc010xrv.2_Silent_p.L165L|GPI_uc002nvg.2_Silent_p.L126L|GPI_uc010xrw.2_Silent_p.L126L|GPI_uc002nvh.1_3'UTR	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	126					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CAACAAGGTTCTGGACAAGAT	0.577000														70			6		0	0	0.021553	0	0
OR4A15	81328	broad.mit.edu	37	11	55135721	55135721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:55135721C>T	uc010rif.2	+	0	362	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAGACCATTTCCTTTCAGGGT	0.388000														174			27		0	0	0.134883	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620463	70620463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:70620463C>T	uc003hen.3	-	2	500	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	68					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTACATTTTTCAATATCTCCA	0.333000														106			13		0	0	0.105934	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730626	173730626	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:173730626C>G	uc003isv.3	+	5	1404	c.668C>G	c.(667-669)gCc>gGc	p.A223G		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	223	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCATCTATGGCCAGAGGAGAA	0.527000														54			9		0	0	0.058154	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205149	61205149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:61205149C>T	uc001nrt.3	+	1	111	c.89C>T	c.(88-90)tCa>tTa	p.S30L		NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN	Homo sapiens succinate dehydrogenase complex assembly factor 2 (SDHAF2), nuclear gene encoding mitochondrial protein, mRNA.	30					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						AGTGTGACATCATTCAGACGC	0.433000														149			16		0	0	0.049695	0	0
PLXNA2	5362	broad.mit.edu	37	1	208257771	208257771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:208257771G>A	uc001hgz.3	-	9	3010	c.2252C>T	c.(2251-2253)cCc>cTc	p.P751L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	751					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCGCAGAGCGGGGACCCGGTG	0.602000														85			12		0	0	0.105934	0	0
DNAH10	196385	broad.mit.edu	37	12	124332625	124332625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:124332625G>A	uc001uft.4	+	31	5603	c.5578G>A	c.(5578-5580)Gaa>Aaa	p.E1860K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1860	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAACTGTGGCGAAGGCATGGA	0.572000														89			24		0	0	0.116897	0	0
DENND4A	10260	broad.mit.edu	37	15	66034088	66034088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:66034088G>A	uc002api.3	-	4	981	c.596C>T	c.(595-597)tCg>tTg	p.S199L	DENND4A_uc002aph.3_Missense_Mutation_p.S199L|DENND4A_uc002apj.3_Missense_Mutation_p.S199L|DENND4A_uc010ujj.1_Missense_Mutation_p.S199L	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	199	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTTGCCACCGATTTTTTATA	0.308000														76			15		0	0	0.069288	0	0
PDE4C	5143	broad.mit.edu	37	19	18330170	18330170	+	Silent	SNP	A	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:18330170A>T	uc010xqc.2	-	7	1320	c.840T>A	c.(838-840)gcT>gcA	p.A280A	PDE4C_uc002nik.4_Silent_p.A280A|PDE4C_uc002nil.4_Silent_p.A280A|PDE4C_uc002nig.4_Silent_p.A50A|PDE4C_uc002nih.4_Silent_p.A50A|PDE4C_uc010ebk.3_Silent_p.A174A|PDE4C_uc002nii.4_Silent_p.A248A|PDE4C_uc002nif.4_Silent_p.A49A|PDE4C_uc010ebl.3_5'UTR	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	280					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGCCTCCTCAGCGGTCACCT	0.652000														45			3		0	0	0.009096	0	0
CIDEA	1149	broad.mit.edu	37	18	12264450	12264450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:12264450C>T	uc002kqt.4	+	2	393	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	CIDEA_uc002kqu.4_Missense_Mutation_p.P144S|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	110	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAAGTGGATGCCGGTAAGCAA	0.463000														29			4		0	0	0.014758	0	0
FAAH2	158584	broad.mit.edu	37	X	57458404	57458404	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:57458404G>A	uc004dvc.3	+	7	1199	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	350						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGTTAAACTGAAGAAAATGA	0.348000										HNSCC(52;0.14)				38			10		0	0	0.080935	0	0
DUSP16	80824	broad.mit.edu	37	12	12629865	12629865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:12629865C>T	uc001rao.2	-	6	2663	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	DUSP16_uc001ran.2_Missense_Mutation_p.E486K	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	634					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATGATGCTCTCTCCAAATTCC	0.522000														235			35		0	0	0.092188	0	0
LOC440563	440563	broad.mit.edu	37	1	13183461	13183461	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:13183461G>A	uc010obg.2	-	1	655	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	138						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										ACTACAGCCAGAGCAATGGGA	0.502000														265			12		0	0	0.093190	0	0
STOX1	219736	broad.mit.edu	37	10	70644563	70644563	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:70644563C>T	uc001jos.2	+	2	1098	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	STOX1_uc001joq.3_Silent_p.F227F|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.F227F	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	337						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTGCTCAGTTCCCACCTGAAG	0.423000														79			12		0	0	0.132662	0	0
CDX1	1044	broad.mit.edu	37	5	149563090	149563090	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:149563090G>A	uc003lrq.3	+	2	741	c.645G>A	c.(643-645)aaG>aaA	p.K215K		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	215						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACAAGAAGAAACAGCAGC	0.627000														34			10		0	0	0.105934	0	0
COG7	91949	broad.mit.edu	37	16	23464251	23464251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:23464251C>T	uc002dlo.3	-	0	262	c.65G>A	c.(64-66)aGg>aAg	p.R22K		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	22					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGAGCCGGCCCTGAAGGCCGC	0.617000														61			6		0	0	0.021553	0	0
ITGA5	3678	broad.mit.edu	37	12	54797093	54797093	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:54797093G>A	uc001sga.3	-	17	1860	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	598					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGTTTGTCTCGAAATTCTGAC	0.572000														158			22		0	0	0.076483	0	0
MTO1	25821	broad.mit.edu	37	6	74189658	74189658	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:74189658G>A	uc010kav.3	+	6	1063	c.939_splice	c.e6-1	p.R313_splice	MTO1_uc003pgy.4_Splice_Site_p.R313_splice|MTO1_uc003pgz.4_Splice_Site_p.R313_splice|MTO1_uc003pha.4_Splice_Site|MTO1_uc003phb.4_Splice_Site_p.R239_splice|MTO1_uc010kaw.1_5'Flank	NM_001123226	NP_001116698	Q9Y2Z2	MTO1_HUMAN	Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	313					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTCTATTCTAGATACTGTCCC	0.393000											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		52			4		0	0	0.021553	0	0
NPHP1	4867	broad.mit.edu	37	2	110936067	110936067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:110936067G>A	uc002tfn.4	-	3	356	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	NPHP1_uc002tfm.4_Missense_Mutation_p.L88F|NPHP1_uc002tfl.4_Missense_Mutation_p.L88F|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Missense_Mutation_p.L88F|NPHP1_uc010fjv.1_Missense_Mutation_p.L88F|NPHP1_uc021vme.1_Missense_Mutation_p.L88F	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	88					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTGTCCAAAAGAGTATGCTCC	0.358000														62			6		0	0	0.029380	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998437	46998438	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:46998437_46998438GG>AA	uc002pes.2	-	0	732_733	c.285_286CC>TT	c.(283-288)gaccgt>gaTTgt	p.R96C	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Missense_Mutation_p.R183Q	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	96										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCCTGCGCACGGTCCTTCCACA	0.678000														174			25		0	0	0.115264	0	0
HECTD3	79654	broad.mit.edu	37	1	45475072	45475073	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:45475072_45475073GG>TA	uc009vxk.3	-	5	1055_1056	c.957_958CC>TA	c.(955-960)aacctg>aaTAtg	p.L320M	HECTD3_uc001cmy.4_5'Flank|HECTD3_uc010olh.2_Missense_Mutation_p.L36M|UROD_uc010oli.2_5'Flank|UROD_uc001cna.2_5'Flank|UROD_uc001cnb.2_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	320	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGCTTCTTCAGGTTGTCCCCTT	0.540000														248			35		0	0	0.115264	0	0
PTCHD2	57540	broad.mit.edu	37	1	11577549	11577549	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:11577549C>T	uc001ash.4	+	6	1917	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	PTCHD2_uc001asi.1_Silent_p.F593F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	593	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTGGCCTGTTCATGTCTCTCA	0.617000														130			15		0	0	0.038395	0	0
CD93	22918	broad.mit.edu	37	20	23066584	23066584	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:23066584C>T	uc002wsv.3	-	0	394	c.246G>A	c.(244-246)cgG>cgA	p.R82R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	82	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.R82W(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGGCTGCCTCCCGCCTCAGGA	0.637000														12			5		0	0	0.021553	0	0
ADAD2	161931	broad.mit.edu	37	16	84229942	84229942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:84229942G>A	uc002fhq.2	+	8	1852	c.1738G>A	c.(1738-1740)Gtt>Att	p.V580I	ADAD2_uc002fhr.2_Missense_Mutation_p.V498I|AK123582_uc002fhs.1_Intron	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	498	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGGCATCGAGGTTGTGGATGT	0.677000														48			5		0	0	0.029380	0	0
PTPRC	5788	broad.mit.edu	37	1	198691544	198691545	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:198691544_198691545GG>AA	uc001gur.1	+	15	1834	c.1654_splice	c.e15-1	p.A552_splice	PTPRC_uc001gut.1_Splice_Site_p.A391_splice|PTPRC_uc009wzf.1_Splice_Site_p.A440_splice|PTPRC_uc021pgy.1_Splice_Site_p.A506_splice|PTPRC_uc010ppg.1_Splice_Site_p.A488_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	552	Fibronectin type-III 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTGAAATTCAGGCCTATTTTCA	0.228000														126			13		0	0	0.115264	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603494	13603494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:13603494G>A	uc003gmz.1	-	9	5147	c.5030C>T	c.(5029-5031)aCt>aTt	p.T1677I	BOD1L1_uc010idr.1_Missense_Mutation_p.T1014I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1677							DNA binding										AAAAGTAATAGTTCCTTCAAC	0.413000														230			7		0	0	0.047766	0	0
PIGG	54872	broad.mit.edu	37	4	517460	517460	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:517460C>T	uc003gak.4	+	8	1963	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	PIGG_uc003gaj.4_Silent_p.L601L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.L476L|PIGG_uc003gal.4_Silent_p.L520L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	609					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGTGTGGCCTCTGTGTGGAAC	0.582000														78			7		0	0	0.047766	0	0
abParts	0	broad.mit.edu	37	2	89976458	89976458	+	RNA	SNP	T	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:89976458T>C	uc010yts.2	+	10		c.1755T>C								Parts of antibodies, mostly variable regions.																		GATGTTGGGGTTTATTACTGC	0.557000														106			5		0	0	0.021553	0	0
APOB	338	broad.mit.edu	37	2	21251284	21251284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:21251284G>A	uc002red.3	-	12	1872	c.1744C>T	c.(1744-1746)Cca>Tca	p.P582S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	582	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)	TGTTCCCATGGTAGAATTTGG	0.413000														87			7		0	0	0.038147	0	0
VARS	7407	broad.mit.edu	37	6	31760888	31760888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:31760888C>T	uc003nxe.3	-	2	820	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	VARS_uc011doi.1_Intron	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	133	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCCAGGGCCCCCAGCACAGCC	0.662000														38			5		0	0	0.029380	0	0
LOC441666	441666	broad.mit.edu	37	10	42832122	42832122	+	RNA	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:42832122C>T	uc010qey.2	-	2		c.1853G>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CAGTAAAAGGCTTTGCCACAT	0.348000														12			3		0	0	0.009096	0	0
PRPF18	8559	broad.mit.edu	37	10	13642301	13642301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:13642301C>T	uc001imp.3	+	2	350	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	PRPF18_uc001imq.3_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA.	68					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex		p.L68R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGTGTTAGAACTTGAACTGGC	0.353000														57			13		0	0	0.038395	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454684	114454684	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:114454684C>T	uc001eeg.3	+	3	1764	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Silent_p.T364T	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	490					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAAGGGCACCCCTCTTCTAG	0.527000								Other identified genes with known or suspected DNA repair function						111			11		0	0	0.080935	0	0
PRUNE2	158471	broad.mit.edu	37	9	79465513	79465513	+	Silent	SNP	G	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:79465513G>C	uc010mpk.3	-	2	334	c.210C>G	c.(208-210)acC>acG	p.T70T	PRUNE2_uc022bih.1_Intron|PRUNE2_uc004akn.3_Silent_p.T70T	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	70					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCTCGTCTCGGTGAAGTAGT	0.388000														180			19		0	0	0.055883	0	0
DLC1	10395	broad.mit.edu	37	8	12943340	12943340	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:12943340T>C	uc003wwm.2	-	17	5011	c.4567A>G	c.(4567-4569)Aaa>Gaa	p.K1523E	DLC1_uc003wwk.1_Missense_Mutation_p.K1086E|DLC1_uc003wwl.1_Missense_Mutation_p.K1120E|DLC1_uc011kxx.1_Missense_Mutation_p.K1012E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1523					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGGTGTCTTTGGTTTCAGTG	0.453000														95			17		0	0	0.043863	0	0
SORCS3	22986	broad.mit.edu	37	10	106849577	106849577	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:106849577A>C	uc001kyi.1	+	5	1300	c.1073A>C	c.(1072-1074)gAg>gCg	p.E358A		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	358						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGCACATGGAGGTGCGGACC	0.557000														47			10		0	0	0.119110	0	0
C2orf53	339779	broad.mit.edu	37	2	27360598	27360598	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:27360598C>T	uc002rjb.2	-	2	1180	c.600G>A	c.(598-600)aaG>aaA	p.K200K	C2orf53_uc021vfb.1_Silent_p.K200K	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	200										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCAGGATCCTTCTCGCTTG	0.647000														36			4		0	0	0.009096	0	0
PENK	5179	broad.mit.edu	37	8	57353922	57353922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:57353922G>A	uc003xsz.2	-	1	794	c.713C>T	c.(712-714)gCc>gTc	p.A238V	PENK_uc003xta.3_Missense_Mutation_p.A238V	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	238					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGAGCCTCGGCAAAGCGCTT	0.478000														96			5		0	0	0.014758	0	0
PKNOX2	63876	broad.mit.edu	37	11	125300032	125300032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:125300032C>T	uc001qbu.3	+	11	1501	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	PKNOX2_uc010saz.2_Missense_Mutation_p.P367L|PKNOX2_uc010sba.2_Missense_Mutation_p.P367L|PKNOX2_uc010sbb.2_Missense_Mutation_p.P332L|PKNOX2_uc001qbv.3_Missense_Mutation_p.P161L	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	396						nucleus	sequence-specific DNA binding transcription factor activity	p.P396T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGGACAAACCCCGATGGTAAG	0.602000														36			4		0	0	0.009096	0	0
STOML2	30968	broad.mit.edu	37	9	35101910	35101910	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:35101910G>A	uc003zwi.3	-	3	396	c.333C>T	c.(331-333)gaC>gaT	p.D111D	STOML2_uc011lou.2_Silent_p.D111D	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	111						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCTTGTAAGGGTCCATGATGC	0.483000														60			25		0	0	0.125774	0	0
BRD3	8019	broad.mit.edu	37	9	136913572	136913572	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:136913572T>C	uc004cew.3	-	5	907	c.719A>G	c.(718-720)aAg>aGg	p.K240R	BRD3_uc004cex.2_Missense_Mutation_p.K240R	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	240						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTTCACGCCCTTTTTCTGCGA	0.632000			T	C15orf55	lethal midline carcinoma of young people									122			3		0	0	0.115264	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013704	149013704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:149013704C>T	uc022cgq.1	+	0	658	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	MAGEA8_uc022cgo.1_Missense_Mutation_p.P220S|MAGEA8_uc004fdw.2_Missense_Mutation_p.P220S|MAGEA8_uc022cgp.1_Missense_Mutation_p.P220S	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	220	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCGCGCCCCGGAGGAGGC	0.572000														41			16		0	0	0.038395	0	0
SLC25A33	84275	broad.mit.edu	37	1	9640068	9640069	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:9640068_9640069CC>GT	uc001apw.3	+	5	762_763	c.539_540CC>GT	c.(538-540)acc>aGT	p.T180S		NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA.	180					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		GTTTACCAGACCGAAGGCATTC	0.416000														33			6		0	0	0.115264	0	0
NAIP	4671	broad.mit.edu	37	5	69405826	69405827	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:69405826_69405827CC>GT	uc003jyj.1	-	0	1684_1685	c.418_419GG>AC	c.(418-420)gga>ACa	p.G140T	SMA4_uc003jxm.3_Intron|SMA4_uc003jxp.3_Intron|SMA4_uc011crh.2_Intron|SMA4_uc011crl.1_Intron|DQ570835_uc021xzz.1_Non-coding_Transcript	NM_022892	NP_075043	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 2, mRNA.	528					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AGTAACAGATCCTTCTTTCTCT	0.431000														215			11		0	0	0.115264	0	0
OR8D4	338662	broad.mit.edu	37	11	123777236	123777236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:123777236G>A	uc010saa.2	+	0	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCTTCTTAGGAATTTACACA	0.423000														89			21		0	0	0.069288	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067810	60067810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:60067810G>A	uc003jsi.4	-	3	375	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	ELOVL7_uc011cqo.2_5'UTR|ELOVL7_uc010iwk.3_Missense_Mutation_p.R59C|ELOVL7_uc003jsj.4_Missense_Mutation_p.R46C	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	59					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AAGGGCTTGCGATTTTCCATG	0.413000														39			4		0	0	0.009096	0	0
GPR98	84059	broad.mit.edu	37	5	89970018	89970018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:89970018G>A	uc003kju.3	+	22	5173	c.5077G>A	c.(5077-5079)Gat>Aat	p.D1693N	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1693					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)		GGAAACGACTGATATCACCAT	0.428000														19			3		0	0	0.009096	0	0
ZNF536	9745	broad.mit.edu	37	19	30935385	30935385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:30935385G>A	uc002nsu.1	+	1	1054	c.916G>A	c.(916-918)Gac>Aac	p.D306N	ZNF536_uc010edd.1_Missense_Mutation_p.D306N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACGTTGTGCGACTTCGCGGC	0.642000														112			10		0	0	0.093190	0	0
RNF26	79102	broad.mit.edu	37	11	119206803	119206803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:119206803G>A	uc001pwh.3	+	0	1594	c.971G>A	c.(970-972)aGa>aAa	p.R324K		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	Homo sapiens ring finger protein 26 (RNF26), mRNA.	324							zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		AGGACCCGGAGACAGGACACT	0.622000														56			5		0	0	0.014758	0	0
COL3A1	1281	broad.mit.edu	37	2	189858774	189858774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:189858774G>A	uc002uqj.1	+	16	1277	c.1160G>A	c.(1159-1161)gGg>gAg	p.G387E	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	387	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCCCTCCTGGGATTAATGGT	0.373000														42			5		0	0	0.029380	0	0
TBPL2	387332	broad.mit.edu	37	14	55903709	55903709	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:55903709G>C	uc001xby.3	-	1	178	c.178C>G	c.(178-180)Ctg>Gtg	p.L60V		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	60					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GGGCTGAACAGGGGAGACCTG	0.453000														104			17		0	0	0.091800	0	0
HTR3B	9177	broad.mit.edu	37	11	113816831	113816831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:113816831C>T	uc001pok.3	+	8	1436	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	HTR3B_uc001pol.3_Missense_Mutation_p.S422F	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	433					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		ACTCTGTGCTCCCTCTGGGCA	0.532000														104			13		0	0	0.119110	0	0
SRRM2	23524	broad.mit.edu	37	16	2815745	2815745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:2815745C>T	uc002crk.3	+	10	5765	c.5216C>T	c.(5215-5217)tCg>tTg	p.S1739L	SRRM2_uc002crj.1_Missense_Mutation_p.S1643L|SRRM2_uc002crl.1_Missense_Mutation_p.S1739L|SRRM2_uc010bsu.1_Missense_Mutation_p.S1643L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1739	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCGAAAAATCGAGGTCTTCA	0.597000														31			4		0	0	0.009096	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552480	140552480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140552480G>A	uc003lit.3	+	0	238	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	22					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTATTTCTGGGAATGTCTTG	0.483000														95			9		0	0	0.080935	0	0
CENPF	1063	broad.mit.edu	37	1	214815371	214815371	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:214815371G>A	uc001hkm.3	+	11	3864	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1306					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTGAGAAGGAGAAGGAGTGCC	0.368000														49			7		0	0	0.047766	0	0
SEC24A	10802	broad.mit.edu	37	5	133996932	133996932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:133996932C>T	uc003kzs.3	+	1	513	c.221C>T	c.(220-222)tCt>tTt	p.S74F	SEC24A_uc021ydr.1_Missense_Mutation_p.S74F|SEC24A_uc011cxu.2_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	74					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGGACAGTCTAACTATGGT	0.493000														173			23		0	0	0.076483	0	0
MYO3A	53904	broad.mit.edu	37	10	26490227	26490227	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:26490227A>G	uc001isn.2	+	32	4939	c.4579A>G	c.(4579-4581)Aaa>Gaa	p.K1527E	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1527					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGACCAAGGAAAGACAGGTA	0.249000														16			3		0	0	0.009096	0	0
ERN2	10595	broad.mit.edu	37	16	23718381	23718381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:23718381G>A	uc002dma.4	-	4	639	c.470C>T	c.(469-471)cCt>cTt	p.P157L	ERN2_uc010bxp.3_Missense_Mutation_p.P157L|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	109					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AACCAGCTCAGGGATGGTGAA	0.547000														68			3		0	0	0.009096	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054126	67054126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:67054126G>A	uc003dmy.3	+	2	788	c.735G>A	c.(733-735)atG>atA	p.M245I	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	245	BACK.									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)		TTCCTCTGATGGAAGATACCT	0.393000														87			7		0	0	0.029380	0	0
MYB	4602	broad.mit.edu	37	6	135507070	135507070	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:135507070A>C	uc003qfh.3	+	1	252	c.53A>C	c.(52-54)gAc>gCc	p.D18A	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.D18A|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_5'UTR|MYB_uc010kgi.3_Missense_Mutation_p.D18A|MYB_uc003qfq.3_Missense_Mutation_p.D18A|MYB_uc010kgj.3_Missense_Mutation_p.D18A|MYB_uc003qfo.3_Missense_Mutation_p.D18A|MYB_uc003qfu.3_Missense_Mutation_p.D18A|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.D18A|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.D18A|MYB_uc003qgd.1_5'Flank	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	18					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GATGATGAGGACTTTGAGATG	0.448000			T	NFIB	adenoid cystic carcinoma									110			10		0	0	0.093190	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368449	111368449	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:111368449C>T	uc003puq.3	-	0	309	c.174G>A	c.(172-174)ggG>ggA	p.G58G						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		AAATCTTCTCCCCTTCTGTCT	0.517000														64			8		0	0	0.047766	0	0
C6orf10	10665	broad.mit.edu	37	6	32261273	32261273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:32261273C>T	uc021yvt.1	-	22	1350	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	C6orf10_uc011dpx.2_Missense_Mutation_p.G384R|C6orf10_uc021yvs.1_Missense_Mutation_p.G310R|C6orf10_uc011dpz.2_Missense_Mutation_p.G391R|C6orf10_uc021yvu.1_Missense_Mutation_p.G391R|C6orf10_uc021yvv.1_Missense_Mutation_p.G377R	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	393						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GCTTCCTGTCCCTTTGAGACA	0.488000														151			14		0	0	0.038395	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43924387	43924387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:43924387G>A	uc010yny.2	+	6	663	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	PLEKHH2_uc002rte.3_Missense_Mutation_p.G194R|PLEKHH2_uc002rtf.3_Missense_Mutation_p.G193R	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	194						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTGACCTTTGGGTGCTTTTT	0.418000														86			6		0	0	0.029380	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103059271	103059271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:103059271G>A	uc001phn.1	+	43	7330	c.7186G>A	c.(7186-7188)Ggt>Agt	p.G2396S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.G2396S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2396	AAA 3 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGAATGGGTTGGTCTAGAAAA	0.318000														74			5		0	0	0.029380	0	0
AGXT	189	broad.mit.edu	37	2	241808436	241808436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:241808436G>A	uc002waa.4	+	0	275	c.154G>A	c.(154-156)Gat>Aat	p.D52N	AGXT_uc010zoi.1_Missense_Mutation_p.D52N	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	52					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CATGAGCAAGGATATGTACCA	0.642000														85			4		0	0	0.014758	0	0
LIPF	8513	broad.mit.edu	37	10	90431601	90431601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:90431601C>T	uc001kfg.2	+	5	662	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LIPF_uc001kfh.2_Missense_Mutation_p.S160F|LIPF_uc010qmt.2_Missense_Mutation_p.S193F|LIPF_uc010qmu.2_Missense_Mutation_p.S150F	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	183					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATTGCCTTTTCCACCAATCCC	0.358000														148			28		0	0	0.064281	0	0
MXRA5	25878	broad.mit.edu	37	X	3238496	3238496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:3238496C>T	uc004crg.4	-	4	5387	c.5230G>A	c.(5230-5232)Gga>Aga	p.G1744R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1744						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)				CGGGTGACTCCCAACTGTGGA	0.463000														12			4		0	0	0.009096	0	0
KIAA0922	23240	broad.mit.edu	37	4	154533475	154533475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:154533475C>T	uc010ipp.3	+	25	3542	c.3490C>T	c.(3490-3492)Cct>Tct	p.P1164S	KIAA0922_uc003inm.4_Missense_Mutation_p.P1163S|KIAA0922_uc010ipq.3_Missense_Mutation_p.P932S	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1163						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGACACAAAGCCTTCTTCAGA	0.338000														42			7		0	0	0.029380	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188248	72188248	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:72188248G>A	uc002fcc.4	-	3	448	c.276C>T	c.(274-276)gtC>gtT	p.V92V	PMFBP1_uc002fcd.3_Silent_p.V92V|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	92								p.L91L(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTGTTGAAGGACCAGCAATT	0.468000														109			12		0	0	0.119110	0	0
USP20	10868	broad.mit.edu	37	9	132630713	132630714	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:132630713_132630714CC>TT	uc004bys.2	+	10	1331_1332	c.1120_1121CC>TT	c.(1120-1122)ccc>TTc	p.P374F	USP20_uc004byr.2_Missense_Mutation_p.P374F|USP20_uc004byt.1_Missense_Mutation_p.P374F	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	374					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GTCCTCCAGCCCCTGCCGGACG	0.693000														30			5		0	0	0.115264	0	0
TRRAP	8295	broad.mit.edu	37	7	98609040	98609040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:98609040C>T	uc003upp.3	+	70	11386	c.11177C>T	c.(11176-11178)cCt>cTt	p.P3726L	TRRAP_uc011kis.2_Missense_Mutation_p.P3697L|TRRAP_uc003upr.3_Missense_Mutation_p.P3432L|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3726	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCAACCGTCCTGTCCCATTT	0.527000														83			7		0	0	0.038147	0	0
TMC2	117532	broad.mit.edu	37	20	2575520	2575520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:2575520G>A	uc002wgf.1	+	8	998	c.983G>A	c.(982-984)aGg>aAg	p.R328K	TMC2_uc002wgg.1_Missense_Mutation_p.R312K|TMC2_uc010zpw.1_Missense_Mutation_p.R160K|TMC2_uc010zpx.1_Missense_Mutation_p.R159K	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	328						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						AACAACCAGAGGACCATCGGG	0.517000														75			11		0	0	0.069234	0	0
RBM12	10137	broad.mit.edu	37	20	34242197	34242197	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:34242197A>C	uc021wcr.1	-	0	1048	c.1048T>G	c.(1048-1050)Ttt>Gtt	p.F350V	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.F350V|RBM12_uc002xds.3_Missense_Mutation_p.F350V|RBM12_uc002xdr.3_Missense_Mutation_p.F350V|RBM12_uc021wcq.1_Missense_Mutation_p.F350V	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	350	RRM 1.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGGGAGAGAAACTTAACCAAT	0.413000											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		139			26		0	0	0.134883	0	0
NBPF3	84224	broad.mit.edu	37	1	21807433	21807433	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:21807433G>A	uc001ber.3	+	11	1742	c.1392G>A	c.(1390-1392)aaG>aaA	p.K464K	NBPF3_uc001bes.3_Silent_p.K408K|NBPF3_uc009vqb.3_Silent_p.K452K|NBPF3_uc010odm.2_Silent_p.K394K	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	464	NBPF 4.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAATGAAAAAGGACCAAGAAG	0.473000														189			11		0	0	0.132662	0	0
VPS35	55737	broad.mit.edu	37	16	46697009	46697009	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:46697009C>T	uc002eef.4	-	13	1812	c.1713G>A	c.(1711-1713)ttG>ttA	p.L571L	VPS35_uc002eed.3_Silent_p.L392L|VPS35_uc002eee.3_Silent_p.L532L	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	571					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTGCTTTGATCAAAGCACTGA	0.378000														39			8		0	0	0.038147	0	0
CCNB3	85417	broad.mit.edu	37	X	50052937	50052937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:50052937G>A	uc004dox.4	+	5	2066	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	CCNB3_uc004doy.3_Missense_Mutation_p.E590K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	590					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTCTTTACAGGAAAAGAAAAT	0.413000														9			3		0	0	0.115264	0	0
MFSD5	84975	broad.mit.edu	37	12	53647064	53647064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:53647064G>A	uc001sch.2	+	1	913	c.766G>A	c.(766-768)Gag>Aag	p.E256K	MFSD5_uc001sci.2_Missense_Mutation_p.E149K|MFSD5_uc021qye.1_Missense_Mutation_p.E149K	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	149					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTCAGCCTTCGAGGCCTGGTA	0.557000														245			45		0	0	0.139131	0	0
AMY2B	280	broad.mit.edu	37	1	104117928	104117928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:104117928G>A	uc010ouo.2	+	17	2666	c.962G>A	c.(961-963)gGg>gAg	p.G321E	AMY2B_uc001duq.3_Missense_Mutation_p.G321E|AMY2B_uc001dur.3_Missense_Mutation_p.G321E|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	321					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CGAGGACATGGGGCTGGAGGA	0.398000														505			28		0	0	0.059317	0	0
EXOC7	23265	broad.mit.edu	37	17	74099764	74099765	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:74099764_74099765GG>AA	uc002jqs.3	-	0	104_105	c.9_10CC>TT	c.(7-12)ccccca>ccTTca	p.P4S	EXOC7_uc010dgv.2_5'Flank|EXOC7_uc010wsv.2_5'Flank|EXOC7_uc010wsw.2_Missense_Mutation_p.P4S|EXOC7_uc002jqq.3_Missense_Mutation_p.P4S|EXOC7_uc010wsx.2_Missense_Mutation_p.P4S|EXOC7_uc002jqr.3_Missense_Mutation_p.P4S|EXOC7_uc002jqu.2_Missense_Mutation_p.P4S|EXOC7_uc002jqv.2_Missense_Mutation_p.P4S	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	4					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCCTCCTGTGGGGGAATCATCG	0.678000														19			5		0	0	0.115264	0	0
NIPAL1	152519	broad.mit.edu	37	4	48036946	48036946	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:48036946G>A	uc003gxw.3	+	4	576	c.510G>A	c.(508-510)ggG>ggA	p.G170G		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	170						integral to membrane		p.G170R(1)		endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACATTCATGGGAAAATAGGCT	0.353000														63			6		0	0	0.029380	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6932064	6932064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrY:6932064G>A	uc004frb.3	+	7	978	c.331G>A	c.(331-333)Gca>Aca	p.A111T	TBL1Y_uc004frc.3_Missense_Mutation_p.A111T|TBL1Y_uc004frd.3_Missense_Mutation_p.A111T|TBL1Y_uc011nap.2_5'UTR	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	111					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						AGCCAGTGCAGCAGCCACAGA	0.547000														25			3		0	0	0.115264	0	0
BTNL2	56244	broad.mit.edu	37	6	32362548	32362548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:32362548C>T	uc003obg.1	-	5	1333	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	BTNL2_uc010jty.1_Missense_Mutation_p.E168K|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Missense_Mutation_p.E235K	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	445						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCGATTTTCTCCTCGCCCAAA	0.458000														70			6		0	0	0.029380	0	0
IKBKB	3551	broad.mit.edu	37	8	42147786	42147786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:42147786C>T	uc003xow.2	+	3	499	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	IKBKB_uc003xov.3_Missense_Mutation_p.R105W|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.R103W|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.R46W	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.	105	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)	AGGAGATCTCCGGAAGGTGAG	0.612000														19			3		0	0	0.009096	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588672	140588672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140588672C>T	uc003liz.3	+	0	382	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	65	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R65Q(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGGGGGCTCGGGTGGTTTC	0.517000														117			9		0	0	0.058154	0	0
RSBN1	54665	broad.mit.edu	37	1	114340452	114340452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:114340452G>A	uc001edq.3	-	1	946	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	304						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTATTAAGTCCTGAAGTG	0.423000														106			17		0	0	0.033300	0	0
KHNYN	23351	broad.mit.edu	37	14	24906411	24906411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:24906411G>A	uc010tpc.2	+	7	2096	c.2080G>A	c.(2080-2082)Gtg>Atg	p.V694M	KHNYN_uc001wph.4_Missense_Mutation_p.V653M|KHNYN_uc010alw.3_Missense_Mutation_p.V653M	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	653										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGATCACAAAGTGGACTTCAT	0.567000											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			13		0	0	0.119110	0	0
SETDB2	83852	broad.mit.edu	37	13	50055134	50055134	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:50055134C>T	uc001vcz.3	+	8	1980	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	SETDB2_uc010adg.2_Silent_p.N334N|SETDB2_uc010adh.2_Silent_p.N346N|SETDB2_uc001vda.3_Silent_p.N346N|SETDB2_uc021rjn.1_Silent_p.N275N	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	358	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGTGTCAAAACCGAGTTGTCC	0.413000														104			10		0	0	0.093190	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629306	9629306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:9629306C>T	uc003jem.1	-	0	1158	c.839G>A	c.(838-840)gGa>gAa	p.G280E		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	280					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TTTAGGATTTCCTAAAATTAA	0.373000														69			16		0	0	0.049695	0	0
C1orf65	164127	broad.mit.edu	37	1	223568659	223568659	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:223568659C>T	uc001hoa.2	+	0	1945	c.1842C>T	c.(1840-1842)ctC>ctT	p.L614L		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	614								p.L614F(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGCCCAGCTCCGTGCCTGTC	0.552000														25			3		0	0	0.014758	0	0
FAM83H	286077	broad.mit.edu	37	8	144808445	144808446	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:144808445_144808446GG>AA	uc003yzk.3	-	4	3254_3255	c.3185_3186CC>TT	c.(3184-3186)ccc>cTT	p.P1062L		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1062					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGTCGGGCCGGGGCTCGGGGC	0.644000														15			7		0	0	0.115264	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999174	143999174	+	Missense_Mutation	SNP	G	A	A	rs143027239		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:143999174G>A	uc003yxk.1	-	0	86	c.83C>T	c.(82-84)gCc>gTc	p.A28V		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	28					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCCCGAGCGGCTCTAGTGCC	0.647000									Familial Hyperaldosteronism type I					99			17		0	0	0.043863	0	0
OR4M1	441670	broad.mit.edu	37	14	20248759	20248759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:20248759C>T	uc010tku.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93S(1)		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)		AAGATAATTTCCTTTGGTGGA	0.448000														409			42		0	0	0.139131	0	0
OTC	5009	broad.mit.edu	37	X	38271195	38271195	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:38271195T>A	uc004def.4	+	8	1162	c.948T>A	c.(946-948)ttT>ttA	p.F316L		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	316					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATGAAGTCTTTTATTCTCCTC	0.428000														71			30		0	0	0.125774	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232248	32232248	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:32232248G>A	uc002wzg.1	+	11	2148	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	CBFA2T2_uc010zug.1_Silent_p.E311E|CBFA2T2_uc002wze.1_Silent_p.E528E|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Silent_p.E508E|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Silent_p.E85E	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	537						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGGACTGGGAGCGGCACCACC	0.647000														85			19		0	0	0.062417	0	0
MDM1	56890	broad.mit.edu	37	12	68717015	68717015	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:68717015G>A	uc001stz.2	-	4	775	c.639C>T	c.(637-639)ttC>ttT	p.F213F	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Silent_p.F168F	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	213						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTTTATTGTGGAAAACCTTAA	0.303000														72			7		0	0	0.047766	0	0
DSTYK	25778	broad.mit.edu	37	1	205130488	205130488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:205130488C>T	uc001hbw.3	-	6	1910	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	DSTYK_uc001hbx.3_Missense_Mutation_p.E616K|DSTYK_uc001hby.1_Missense_Mutation_p.E77K	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	616						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TCCGTTTTCTCTAACCGGCCT	0.498000														60			7		0	0	0.038147	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480653	140480653	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140480653G>A	uc003lio.3	+	0	420	c.420G>A	c.(418-420)ctG>ctA	p.L140L	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	140	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H139N(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGCATCTGAAAATCCTAG	0.403000														129			16		0	0	0.043863	0	0
P4HA3	283208	broad.mit.edu	37	11	73997013	73997013	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:73997013G>A	uc010rrj.2	-	6	994	c.951C>T	c.(949-951)atC>atT	p.I317I	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.I317I			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	317						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGAGGCTAGGGATCTGGTAGA	0.493000														116			14		0	0	0.038395	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258025	9258025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:9258025C>T	uc002knv.3	+	8	5024	c.4760C>T	c.(4759-4761)tCa>tTa	p.S1587L	ANKRD12_uc002knw.3_Missense_Mutation_p.S1564L|ANKRD12_uc002knx.3_Missense_Mutation_p.S1564L|ANKRD12_uc010dkx.1_Missense_Mutation_p.S1294L	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1587						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTGTTACCATCAGAAAAGGAC	0.393000														75			16		0	0	0.038395	0	0
PCDH15	65217	broad.mit.edu	37	10	55943256	55943256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:55943256G>A	uc010qhy.1	-	13	1948	c.1553C>T	c.(1552-1554)tCc>tTc	p.S518F	PCDH15_uc010qhq.2_Missense_Mutation_p.S518F|PCDH15_uc010qhr.2_Missense_Mutation_p.S513F|PCDH15_uc021pqv.1_Missense_Mutation_p.S513F|PCDH15_uc021pqw.1_Missense_Mutation_p.S525F|PCDH15_uc010qht.2_Missense_Mutation_p.S520F|PCDH15_uc021pqx.1_Missense_Mutation_p.S513F|PCDH15_uc001jjv.1_Missense_Mutation_p.S491F|PCDH15_uc021pqy.1_Missense_Mutation_p.S513F|PCDH15_uc021pqz.1_Missense_Mutation_p.S491F|PCDH15_uc010qhv.1_Missense_Mutation_p.S513F|PCDH15_uc010qhw.1_Missense_Mutation_p.S476F|PCDH15_uc010qhx.1_Missense_Mutation_p.S513F|PCDH15_uc010qhz.1_Missense_Mutation_p.S513F|PCDH15_uc010qia.1_Missense_Mutation_p.S491F|PCDH15_uc001jju.1_Missense_Mutation_p.S513F|PCDH15_uc010qib.1_Missense_Mutation_p.S491F|PCDH15_uc001jjw.3_Missense_Mutation_p.S513F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	513	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACATCATAGGATATTTCAGG	0.378000										HNSCC(58;0.16)				116			14		0	0	0.132662	0	0
NFATC3	4775	broad.mit.edu	37	16	68225518	68225519	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:68225518_68225519CC>TT	uc002evo.2	+	8	3262_3263	c.2946_2947CC>TT	c.(2944-2949)ggccag>ggTTag	p.Q983*	NFATC3_uc010vkl.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkm.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkn.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vko.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkp.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkq.2_Nonsense_Mutation_p.Q504*|NFATC3_uc002evl.3_Nonsense_Mutation_p.Q504*|NFATC3_uc002evk.3_Nonsense_Mutation_p.Q983*|NFATC3_uc002evm.2_Nonsense_Mutation_p.Q983*|NFATC3_uc002evn.2_Nonsense_Mutation_p.Q983*|NFATC3_uc010vkr.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vks.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkt.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vku.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkv.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkw.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkx.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vky.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vkz.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vla.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vlb.2_Nonsense_Mutation_p.Q504*|NFATC3_uc010vlc.2_Nonsense_Mutation_p.Q504*	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	983					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AAAGTACGGGCCAGGGGGGTCT	0.505000														198			12		0	0	0.115264	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227216516	227216516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:227216516G>A	uc001hqr.3	-	28	5112	c.4169C>T	c.(4168-4170)tCa>tTa	p.S1390L	CDC42BPA_uc001hqq.3_Missense_Mutation_p.S689L|CDC42BPA_uc001hqs.3_Missense_Mutation_p.S1309L|CDC42BPA_uc009xes.3_Missense_Mutation_p.S1362L|CDC42BPA_uc010pvs.2_Missense_Mutation_p.S1370L|CDC42BPA_uc001hqp.3_Missense_Mutation_p.S546L|CDC42BPA_uc001hqt.2_Missense_Mutation_p.S268L|CDC42BPA_uc001hqu.1_Missense_Mutation_p.S597L	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1403	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TGCAATAAATGATAGTGTATG	0.408000														96			11		0	0	0.093190	0	0
UGDH	7358	broad.mit.edu	37	4	39507238	39507238	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:39507238C>T	uc003guk.2	-	8	1360	c.1037_splice	c.e8+1	p.R346_splice	UGDH_uc011byp.2_Splice_Site_p.R249_splice|UGDH_uc003gul.2_Splice_Site_p.R279_splice	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	346					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process	cytosol	NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	AAACTGATACCTTGTATCACC	0.318000														148			25		0	0	0.144211	0	0
CD1E	913	broad.mit.edu	37	1	158326598	158326598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:158326598C>T	uc001fse.3	+	5	1372	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	CD1E_uc001fsh.3_Missense_Mutation_p.S159L|CD1E_uc001fry.3_Missense_Mutation_p.S293L|CD1E_uc001fsf.3_Missense_Mutation_p.S348L|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Missense_Mutation_p.S261L|CD1E_uc001fsj.3_Missense_Mutation_p.S203L|CD1E_uc001fsk.3_Missense_Mutation_p.S270L|CD1E_uc001fsa.3_Missense_Mutation_p.S116L|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Missense_Mutation_p.S258L|CD1E_uc010pig.2_Missense_Mutation_p.S104L|CD1E_uc001fsc.3_Missense_Mutation_p.S171L|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_Nonsense_Mutation_p.Q75*	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	360					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACCAAGAATTCAAGACATCAG	0.448000														103			14		0	0	0.132662	0	0
C19orf21	126353	broad.mit.edu	37	19	758344	758344	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:758344C>T	uc002lpo.3	+	1	1481	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	466										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGATGTCCCCGAGGCATC	0.612000														65			12		0	0	0.119110	0	0
FAT4	79633	broad.mit.edu	37	4	126370225	126370225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:126370225G>A	uc003ifj.4	+	8	8054	c.8054G>A	c.(8053-8055)cGa>cAa	p.R2685Q	FAT4_uc011cgp.2_Missense_Mutation_p.R983Q|FAT4_uc003ifi.1_Missense_Mutation_p.R163Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2685	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2685Q(3)		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						CTTTCCCCTCGAAAAATACTT	0.348000														168			22		0	0	0.099896	0	0
ZNF836	162962	broad.mit.edu	37	19	52658648	52658648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:52658648G>A	uc010ydj.2	-	4	2810	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	ZNF836_uc010ydi.2_Missense_Mutation_p.S763L	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCAAGGTTCGAAGTGGAATT	0.423000														56			7		0	0	0.029380	0	0
FGFR2	2263	broad.mit.edu	37	10	123310941	123310941	+	Missense_Mutation	SNP	C	T	T	rs67257519		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:123310941C>T	uc021pzz.1	-	4	1134	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	FGFR2_uc021pzv.1_Missense_Mutation_p.E163K|FGFR2_uc021pzw.1_Missense_Mutation_p.E48K|FGFR2_uc021pzx.1_Missense_Mutation_p.E74K|FGFR2_uc021pzy.1_Missense_Mutation_p.E163K|FGFR2_uc010qtl.2_Missense_Mutation_p.E163K|FGFR2_uc010qtm.2_Missense_Mutation_p.E48K|FGFR2_uc021qaa.1_Missense_Mutation_p.E163K|FGFR2_uc021qab.1_Missense_Mutation_p.E74K|FGFR2_uc021qac.1_Missense_Mutation_p.E93K|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.E182K|FGFR2_uc010qto.2_Missense_Mutation_p.E67K|FGFR2_uc001lfo.1_Missense_Mutation_p.E182K|FGFR2_uc010qtp.2_Missense_Mutation_p.E182K|FGFR2_uc010qtq.2_Missense_Mutation_p.E182K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	163	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGCCGCTTTTCCATCTTTTCT	0.512000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					54			12		0	0	0.080935	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53682940	53682940	+	Missense_Mutation	SNP	C	T	T	rs142349647	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:53682940C>T	uc002ehp.3	-	15	2304	c.2240G>A	c.(2239-2241)cGa>cAa	p.R747Q	RPGRIP1L_uc002eho.4_Missense_Mutation_p.R747Q|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R747Q|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R747Q|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R747Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	747					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGCCCTTTCTCGATAAAGTCG	0.408000														138			13		0	0	0.132662	0	0
COMMD1	150684	broad.mit.edu	37	2	62228057	62228057	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:62228057C>T	uc002sbp.3	+	1	413	c.402C>T	c.(400-402)caC>caT	p.H134H		NM_152516	NP_689729	Q8N668	COMD1_HUMAN	Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA.	134	COMM.				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AGTCAAGGCACTCAGCTCAAA	0.458000														55			6		0	0	0.021553	0	0
COL7A1	1294	broad.mit.edu	37	3	48604435	48604435	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:48604435A>G	uc003ctz.2	-	109	8132	c.8131T>C	c.(8131-8133)Ttc>Ctc	p.F2711L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2711	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCCTGGGAAGCCCCCAATT	0.602000														23			6		0	0	0.047766	0	0
CAND1	55832	broad.mit.edu	37	12	67699410	67699411	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:67699410_67699411CC>TT	uc001stn.2	+	9	2399_2400	c.1962_1963CC>TT	c.(1960-1965)atcctt>atTTtt	p.L655F	CAND1_uc001sto.2_Missense_Mutation_p.L165F	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	655					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGGTTCCTATCCTTGCTTCATT	0.406000														104			11		0	0	0.115264	0	0
ACSM1	116285	broad.mit.edu	37	16	20681188	20681188	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:20681188G>A	uc002dhm.1	-	4	941	c.873C>T	c.(871-873)atC>atT	p.I291I	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.I291I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	291					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						GCAGATGGTGGATAAAGACTG	0.478000														83			9		0	0	0.093190	0	0
AGR3	155465	broad.mit.edu	37	7	16901068	16901068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:16901068C>T	uc003sts.3	-	5	380	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	103						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TCAGTGGTTTCATGCTAGCAG	0.323000														129			17		0	0	0.033300	0	0
DEFB125	245938	broad.mit.edu	37	20	76694	76694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:76694G>A	uc002wcw.3	+	1	107	c.107G>A	c.(106-108)aGa>aAa	p.R36K		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	36					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			GGACATTGCAGAAGACGATGT	0.348000														108			13		0	0	0.119110	0	0
KRT80	144501	broad.mit.edu	37	12	52574658	52574658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:52574658G>A	uc001rzw.3	-	1	461	c.410C>T	c.(409-411)tCc>tTc	p.S137F	KRT80_uc001rzy.3_Intron|KRT80_uc001rzx.3_Intron	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	290	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CATGAGGAAGGAGCCCCTGGG	0.562000														27			6		0	0	0.029380	0	0
SFTA2	389376	broad.mit.edu	37	6	30899540	30899541	+	Nonsense_Mutation	DNP	CC	AG	AG			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:30899540_30899541CC>AG	uc003nsf.3	-	1	172_173	c.93_94GG>CT	c.(91-96)aaggag>aaCTag	p.31_32KE>N*		NM_205854	NP_995326	Q6UW10	SFTA2_HUMAN	Homo sapiens surfactant associated 2 (SFTA2), mRNA.	31						extracellular region				lung(2)	2						AGAAAAGACTCCTTCAGCTTCA	0.500000														80			16		0	0	0.115264	0	0
COL4A4	1286	broad.mit.edu	37	2	227920757	227920757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:227920757G>A	uc021vxr.1	-	28	2721	c.2620C>T	c.(2620-2622)Ctc>Ttc	p.L874F	COL4A4_uc021vxs.1_Missense_Mutation_p.L874F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	874	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CGTCCTGGGAGTCCGGGGAGG	0.632000														33			6		0	0	0.021553	0	0
IFIT2	3433	broad.mit.edu	37	10	91066196	91066196	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:91066196T>A	uc009xts.3	+	1	658	c.483T>A	c.(481-483)ttT>ttA	p.F161L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	161					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGGTGTGCTTTGAGAAGGCTC	0.498000														40			5		0	0	0.014758	0	0
WDR62	284403	broad.mit.edu	37	19	36594428	36594429	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:36594428_36594429CC>TT	uc002odd.2	+	29	3789_3790	c.3698_3699CC>TT	c.(3697-3699)tcc>tTT	p.S1233F	WDR62_uc002odc.2_Missense_Mutation_p.S1228F	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1228					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCAGCATCTCCCTCGGTGACA	0.668000														67			8		0	0	0.115264	0	0
MUT	4594	broad.mit.edu	37	6	49399535	49399535	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:49399535T>C	uc003ozg.4	-	12	2424	c.2159A>G	c.(2158-2160)aAt>aGt	p.N720S		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	720	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			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)	ACCAAATACATTGGAAACACC	0.363000														238			4		0	0	0.029380	0	0
PCNX	22990	broad.mit.edu	37	14	71485730	71485730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr14:71485730C>T	uc001xmo.2	+	11	3447	c.3001C>T	c.(3001-3003)Cgt>Tgt	p.R1001C	PCNX_uc010are.1_Missense_Mutation_p.R890C|PCNX_uc010arf.1_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1001						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCGTAGAAATCGTGAGATCCT	0.368000														82			12		0	0	0.105934	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691817	77691817	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:77691817C>T	uc011cbx.2	+	9	6341	c.5388C>T	c.(5386-5388)acC>acT	p.T1796T	SHROOM3_uc003hkg.3_Silent_p.T1574T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1796	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGCTGGAGACCCTCCAGGAGG	0.567000														46			3		0	0	0.115264	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588661	140588661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140588661C>T	uc003liz.3	+	0	371	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S61S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGTCTTCGCGGGGGGCT	0.507000														115			8		0	0	0.069234	0	0
UQCC	55245	broad.mit.edu	37	20	33961986	33961986	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:33961986C>T	uc002xcd.3	-	5	585	c.406_splice	c.e5+1	p.R136_splice	UQCC_uc010zuy.2_Splice_Site_p.R37_splice|UQCC_uc021wcl.1_Intron|UQCC_uc010zva.2_Intron|UQCC_uc010gfb.3_Splice_Site_p.R136_splice|UQCC_uc010zvb.2_Splice_Site_p.R68_splice|UQCC_uc002xcg.3_Intron|UQCC_uc002xcf.3_Intron|UQCC_uc010zuz.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Splice_Site_p.R90_splice|UQCC_uc010gfd.2_Splice_Site_p.R122_splice	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	136				LR -> MG (in Ref. 2; BAB14217).		cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAATAACTTACTTAGAAAGAA	0.343000														84			4		0	0	0.009096	0	0
GRID1	2894	broad.mit.edu	37	10	87482861	87482861	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:87482861G>A	uc001kdl.1	-	11	1997	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.I203I	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	632						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R631H(1)|p.R631S(1)|p.R631C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGCCCATCACGATGCGCATGG	0.582000										Multiple Myeloma(13;0.14)				33			5		0	0	0.014758	0	0
HEATR5B	54497	broad.mit.edu	37	2	37267538	37267538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:37267538C>T	uc002rpp.1	-	19	3076	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	994							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGATGAACTTCTGTATGTGAA	0.413000														106			6		0	0	0.029380	0	0
ACE	1636	broad.mit.edu	37	17	61557804	61557804	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:61557804C>T	uc002jau.2	+	4	796	c.762C>T	c.(760-762)ctC>ctT	p.L254L	ACE_uc010wpi.2_Silent_p.L254L|ACE_uc010ddu.2_Silent_p.L71L	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	254	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACCTGAACCTCCATGCCTTCG	0.607000														107			13		0	0	0.132662	0	0
GRID1	2894	broad.mit.edu	37	10	87628917	87628917	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:87628917G>A	uc001kdl.1	-	5	902	c.801C>T	c.(799-801)atC>atT	p.I267I	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	267						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I267T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCAGATCCAGGATCTCCGGGT	0.507000										Multiple Myeloma(13;0.14)				100			14		0	0	0.033300	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805124	44805124	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:44805124T>C	uc003tlr.3	+	15	2311	c.2188T>C	c.(2188-2190)Ttt>Ctt	p.F730L	ZMIZ2_uc003tlq.3_Missense_Mutation_p.F672L|ZMIZ2_uc003tls.3_Missense_Mutation_p.F704L|ZMIZ2_uc003tlt.3_Missense_Mutation_p.F353L|ZMIZ2_uc010kyj.3_Missense_Mutation_p.F252L|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	730	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.P729>?(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CGCTGCCCCCTTTGCCCCCCT	0.687000														19			4		0	0	0.029380	0	0
FAM46C	54855	broad.mit.edu	37	1	118166042	118166042	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:118166042C>T	uc021osq.1	+	0	552	c.552C>T	c.(550-552)ttC>ttT	p.F184F	FAM46C_uc001ehe.3_Silent_p.F184F	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	184										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TGGACTCTTTCCAAATCATCC	0.502000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				129			15		0	0	0.146539	0	0
SIK3	23387	broad.mit.edu	37	11	116729109	116729110	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:116729109_116729110CC>TT	uc001ppy.3	-	19	2789_2790	c.2753_2754GG>AA	c.(2752-2754)cgg>cAA	p.R918Q	SIK3_uc001ppz.3_Missense_Mutation_p.R757Q|SIK3_uc001pqa.3_Missense_Mutation_p.R858Q|SIK3_uc001ppw.3_Missense_Mutation_p.R275Q|SIK3_uc001ppx.3_Missense_Mutation_p.R296Q|SIK3_uc001pqb.3_Missense_Mutation_p.R221Q	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	918	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGAGCGAATGCCGGGGAGAAAG	0.599000														84			8		0	0	0.115264	0	0
DNAH3	55567	broad.mit.edu	37	16	21069510	21069510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:21069510C>T	uc010vbe.2	-	26	3821	c.3821G>A	c.(3820-3822)cGa>cAa	p.R1274Q		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1274	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGTGATTTCGAGGGACCTG	0.507000														37			4		0	0	0.009096	0	0
SLC39A3	29985	broad.mit.edu	37	19	2733194	2733194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:2733194G>A	uc010xgy.1	-	2	754	c.500C>T	c.(499-501)cCc>cTc	p.P167L	SLC39A3_uc002lwg.3_Missense_Mutation_p.P167L	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	167						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCGCACGGGGCTGGCGCG	0.741000														28			8		0	0	0.038147	0	0
TLR1	7096	broad.mit.edu	37	4	38798510	38798510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:38798510G>A	uc003gtl.3	-	3	2217	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	TLR1_uc021xnn.1_Missense_Mutation_p.S648F	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	648	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity	p.D647N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CACCCAGAAAGAATCGTGCCC	0.443000														96			14		0	0	0.132662	0	0
PRG4	10216	broad.mit.edu	37	1	186277995	186277995	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:186277995G>A	uc001gru.4	+	6	3195	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T1007T|PRG4_uc009wyl.3_Silent_p.T955T|PRG4_uc009wym.3_Silent_p.T914T|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1048					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T1048T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACCAAAGACGACACCAACTC	0.453000														71			15		0	0	0.132662	0	0
NAV2	89797	broad.mit.edu	37	11	19914094	19914094	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:19914094C>T	uc010rdm.2	+	6	1315	c.954C>T	c.(952-954)tcC>tcT	p.S318S	NAV2_uc001mpp.3_Silent_p.S231S|NAV2_uc001mpr.4_Silent_p.S295S|NAV2_uc021qew.1_Silent_p.S295S	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	318						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATGATAAATCCAAACCAGTCA	0.542000														46			7		0	0	0.038147	0	0
PHACTR3	116154	broad.mit.edu	37	20	58416519	58416519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:58416519G>A	uc002yau.3	+	10	1983	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PHACTR3_uc002yat.3_Missense_Mutation_p.E503K|PHACTR3_uc010zzw.2_Missense_Mutation_p.E465K|PHACTR3_uc002yav.3_Missense_Mutation_p.E465K|PHACTR3_uc002yaw.3_Missense_Mutation_p.E465K|PHACTR3_uc002yax.3_Missense_Mutation_p.E395K|PHACTR3_uc002yay.3_Missense_Mutation_p.E75K	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	506	Required for PP1CA binding and inhibition of PP1 activity.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGATTACGTGGAAGTAGCAAA	0.438000														46			13		0	0	0.132662	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794311	7794311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:7794311C>T	uc002mhp.4	-	8	892	c.823G>A	c.(823-825)Gac>Aac	p.D275N	CLEC4G_uc021uny.1_Missense_Mutation_p.D263N	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	275	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CACGGTGCGTCGTTCCACAGC	0.632000														50			7		0	0	0.029380	0	0
ANO5	203859	broad.mit.edu	37	11	22249077	22249077	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:22249077T>G	uc001mqi.2	+	6	910	c.593T>G	c.(592-594)cTc>cGc	p.L198R	ANO5_uc001mqj.2_Missense_Mutation_p.L197R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	198						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCAGGAGCTCTTCCTCATC	0.453000														93			12		0	0	0.093190	0	0
GDPD5	81544	broad.mit.edu	37	11	75160936	75160936	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:75160936G>A	uc001owo.4	-	7	1005	c.468C>T	c.(466-468)tcC>tcT	p.S156S	GDPD5_uc001owp.4_Silent_p.S156S|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Silent_p.S18S|GDPD5_uc009yud.3_Intron|GDPD5_uc009yue.1_Intron	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	156					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TCACCTGCAGGGAGATCAGCA	0.637000														54			3		0	0	0.009096	0	0
SMC1B	27127	broad.mit.edu	37	22	45798252	45798252	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:45798252A>C	uc003bgc.3	-	4	867	c.815T>G	c.(814-816)aTg>aGg	p.M272R	SMC1B_uc003bgd.3_Missense_Mutation_p.M272R|SMC1B_uc003bge.1_Missense_Mutation_p.M55R	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	272					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTAGTTAGCATTCCATGTTC	0.328000														65			5		0	0	0.014758	0	0
TUSC5	286753	broad.mit.edu	37	17	1183460	1183460	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:1183460G>A	uc002fsi.1	+	0	504	c.165G>A	c.(163-165)caG>caA	p.Q55Q		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.	55					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATCTGGAGCAGAACAGCCAGG	0.632000														68			7		0	0	0.038147	0	0
F13B	2165	broad.mit.edu	37	1	197019883	197019883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:197019883C>T	uc001gtt.1	-	9	1726	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	561	Sushi 9.				blood coagulation	extracellular region		p.G561V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTCCCTAGATCCTTCTAGGAA	0.353000														42			8		0	0	0.058154	0	0
DCST1	149095	broad.mit.edu	37	1	155007182	155007182	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:155007182A>G	uc001fgn.2	+	3	355	c.241A>G	c.(241-243)Atg>Gtg	p.M81V	DCST2_uc001fgm.3_5'Flank|DCST2_uc009wpb.3_5'Flank|DCST1_uc010per.2_Missense_Mutation_p.M106V|DCST1_uc010pes.2_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	81						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACAGAAGATTATGTTCTTGTA	0.537000														84			10		0	0	0.119110	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647683	92647683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr15:92647683G>A	uc002bqx.2	+	3	1121	c.920G>A	c.(919-921)aGa>aAa	p.R307K	SLCO3A1_uc002bqy.2_Missense_Mutation_p.R307K|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.R249K	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	307					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTCTCCGAAAGAGAATACGAG	0.587000														37			5		0	0	0.014758	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734924	176734924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:176734924G>A	uc001gkz.3	+	14	5438	c.4274G>A	c.(4273-4275)aGg>aAg	p.R1425K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1425	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTTGTCAAAGGGGATTTGCC	0.522000														88			12		0	0	0.105934	0	0
AP5Z1	9907	broad.mit.edu	37	7	4815384	4815384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:4815384C>T	uc003sne.3	+	0	123	c.38C>T	c.(37-39)gCc>gTc	p.A13V	AP5Z1_uc010ksp.3_Non-coding_Transcript	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	13					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CTCCACCAGGCCAGGTACGGG	0.692000														18			4		0	0	0.014758	0	0
ATP12A	479	broad.mit.edu	37	13	25255747	25255747	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:25255747C>T	uc010aaa.3	+	1	390	c.57C>T	c.(55-57)atC>atT	p.I19I	ATP12A_uc001upp.3_Silent_p.I19I	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	19					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTAAGGACATCGTGAAAACAG	0.468000														74			7		0	0	0.029380	0	0
ENC1	8507	broad.mit.edu	37	5	73932233	73932233	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:73932233G>A	uc003kdc.4	-	1	1209	c.78C>T	c.(76-78)tcC>tcT	p.S26S	ENC1_uc011css.2_Intron|ENC1_uc021yao.1_Silent_p.S26S	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	26					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CAGCGTAGGAGGACTTGTGAA	0.502000														41			9		0	0	0.058154	0	0
CCDC41	51134	broad.mit.edu	37	12	94806245	94806245	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:94806245C>G	uc001tdd.3	-	2	608	c.22G>C	c.(22-24)Gat>Cat	p.D8H	CCDC41_uc001tde.3_Missense_Mutation_p.D8H|CCDC41_uc009zsw.1_Intron|CCDC41_uc001tdf.3_Missense_Mutation_p.D8H	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	0										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						GTGTCCATATCGGTAAATGTG	0.393000														79			9		0	0	0.058154	0	0
SCN11A	11280	broad.mit.edu	37	3	38936084	38936084	+	Missense_Mutation	SNP	G	T	T	rs140576269	by1000genomes	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:38936084G>T	uc021wvy.1	-	14	2974	c.2775C>A	c.(2773-2775)gaC>gaA	p.D925E	SCN11A_uc010hhn.1_Missense_Mutation_p.D41E	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	925					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAATTCAACGTCATCTTCCT	0.483000														166			37		3.61848e-18	3.75727e-18	0.098360	1	0
CACHD1	57685	broad.mit.edu	37	1	65142646	65142646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:65142646C>T	uc001dbo.1	+	21	2996	c.2891C>T	c.(2890-2892)gCt>gTt	p.A964V	CACHD1_uc001dbp.1_Missense_Mutation_p.A719V|CACHD1_uc001dbq.1_Missense_Mutation_p.A719V|CACHD1_uc010opa.1_Missense_Mutation_p.A208V	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1015	Cys-rich.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTGCAAGATGCTCTTCACCAG	0.493000														86			16		0	0	0.038395	0	0
SLC18A1	6570	broad.mit.edu	37	8	20005148	20005148	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:20005148G>A	uc011kyq.2	-	14	1767	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	SLC18A1_uc003wzm.3_Silent_p.I432I|SLC18A1_uc011kyr.2_Silent_p.I432I|SLC18A1_uc003wzn.3_Silent_p.I400I|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	432					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CCACATCAGCGATGGCGTAGA	0.547000														41			3		0	0	0.115264	0	0
BRD3	8019	broad.mit.edu	37	9	136915577	136915577	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:136915577G>A	uc004cew.3	-	4	821	c.633C>T	c.(631-633)gtC>gtT	p.V211V	BRD3_uc004cex.2_Silent_p.V211V	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	211						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGGGACTGGGACCGACGTGA	0.687000			T	C15orf55	lethal midline carcinoma of young people									108			13		0	0	0.132662	0	0
PDE5A	8654	broad.mit.edu	37	4	120463730	120463730	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:120463730G>A	uc003idh.3	-	9	1611	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	PDE5A_uc003idf.3_Nonsense_Mutation_p.R444*|PDE5A_uc003idg.3_Nonsense_Mutation_p.R434*|AF085995_uc003idi.4_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	486	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.R486Q(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCGTCATTTCGGTTGAAAGGC	0.428000														68			5		0	0	0.014758	0	0
SFMBT1	51460	broad.mit.edu	37	3	52939188	52939188	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:52939188C>A	uc003dgf.3	-	21	3188	c.2565G>T	c.(2563-2565)agG>agT	p.R855S	SFMBT1_uc010hmr.3_Missense_Mutation_p.R759S|SFMBT1_uc003dgg.3_Missense_Mutation_p.R855S|SFMBT1_uc003dgh.3_Missense_Mutation_p.R855S	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	855	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CAAACTTGATCCTCTCTATGT	0.458000														89			4		0.014758	0.0149553	0.014758	1	0
PHF21B	112885	broad.mit.edu	37	22	45278977	45278978	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:45278977_45278978CC>TT	uc003bfn.3	-	12	1735_1736	c.1584_1585GG>AA	c.(1582-1587)cagggc>caAAgc	p.G529S	PHF21B_uc011aqk.2_Missense_Mutation_p.G475S|PHF21B_uc003bfm.3_Missense_Mutation_p.G325S|PHF21B_uc011aql.2_Missense_Mutation_p.G487S	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	529							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CAGTTGTGGCCCTGGGGGTGCT	0.614000														172			20		0	0	0.115264	0	0
CDH12	1010	broad.mit.edu	37	5	21975370	21975370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:21975370C>T	uc010iuc.2	-	2	814	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CDH12_uc011cno.1_Missense_Mutation_p.R119K|CDH12_uc003jgk.2_Missense_Mutation_p.R119K	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	119	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTCTCTTCTCTATCTAGGCT	0.478000										HNSCC(59;0.17)				62			11		0	0	0.093190	0	0
GTF3C1	2975	broad.mit.edu	37	16	27476016	27476016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:27476016G>A	uc002dov.2	-	33	5537	c.5497C>T	c.(5497-5499)Cag>Tag	p.Q1833*	GTF3C1_uc002dou.3_Nonsense_Mutation_p.Q1833*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1833						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCTGGCCTGGGGGTCTTCT	0.682000														44			3		0	0	0.115264	0	0
GPR155	151556	broad.mit.edu	37	2	175346399	175346399	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:175346399A>C	uc002uit.3	-	2	677	c.286T>G	c.(286-288)Tcc>Gcc	p.S96A	GPR155_uc002uiu.3_Missense_Mutation_p.S96A|GPR155_uc002uiv.3_Missense_Mutation_p.S96A|GPR155_uc010fqs.3_Missense_Mutation_p.S96A	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	96					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TCCACATTGGAAAAATTAAGT	0.358000														117			7		0	0	0.080935	0	0
AFP	174	broad.mit.edu	37	4	74313303	74313303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:74313303C>T	uc003hgz.1	+	7	1015	c.968C>T	c.(967-969)cCt>cTt	p.P323L	AFP_uc011cbg.1_Missense_Mutation_p.P97L	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	323	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATGAAAAACCTGAAGGTCTA	0.363000									Alpha-Fetoprotein, Hereditary Persistence of					43			3		0	0	0.009096	0	0
VPREB1	7441	broad.mit.edu	37	22	22599458	22599458	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:22599458C>T	uc002zvx.1	+	1	173	c.147C>T	c.(145-147)atC>atT	p.I49I	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	49	Complementarity-determining-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGACATCGGTGTGTACA	0.617000														109			19		0	0	0.069288	0	0
MUC16	94025	broad.mit.edu	37	19	9056625	9056625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:9056625G>A	uc002mkp.3	-	2	31025	c.30821C>T	c.(30820-30822)tCc>tTc	p.S10274F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10276	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						TGTGCCAGTGGAAATAGTCTC	0.473000														65			10		0	0	0.058154	0	0
TMEM5	10329	broad.mit.edu	37	12	64202701	64202701	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:64202701G>A	uc001srq.1	+	5	1265	c.1161G>A	c.(1159-1161)aaG>aaA	p.K387K	TMEM5_uc001srs.1_Silent_p.K127K	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	387						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TCTTTATCAAGAACTGGAAGG	0.403000														44			6		0	0	0.021553	0	0
PROKR1	10887	broad.mit.edu	37	2	68882300	68882300	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:68882300G>A	uc010yqj.2	+	1	934	c.774G>A	c.(772-774)gaG>gaA	p.E258E	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	258						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCCGGGAGCTCTGGTTCA	0.577000														43			4		0	0	0.014758	0	0
NOTCH4	4855	broad.mit.edu	37	6	32164129	32164129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:32164129C>T	uc003obb.3	-	28	5409	c.5270G>A	c.(5269-5271)gGa>gAa	p.G1757E	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Intron|NOTCH4_uc003oba.3_Missense_Mutation_p.G417E|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.G166E	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1757					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTTATCGGCTCCGGCCTGGAG	0.607000														140			27		0	0	0.045705	0	0
CSMD2	114784	broad.mit.edu	37	1	34102012	34102012	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:34102012G>A	uc001bxm.1	-	29	5094	c.4917C>T	c.(4915-4917)atC>atT	p.I1639I	CSMD2_uc001bxn.1_Silent_p.I1599I|CSMD2_uc001bxo.1_Silent_p.I512I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1599	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGCCCCAGGATGCAGCTCA	0.652000														24			5		0	0	0.014758	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584873	72584873	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:72584873C>T	uc002jkz.2	-	1	185	c.156G>A	c.(154-156)cgG>cgA	p.R52R	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	52	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CTCCTTGACACCGCCACTTCA	0.468000														127			24		0	0	0.083992	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319312	83319312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:83319312C>T	uc004eej.2	-	21	2247	c.2211G>A	c.(2209-2211)atG>atA	p.M737I	RPS6KA6_uc011mqt.2_Missense_Mutation_p.M737I|RPS6KA6_uc011mqu.2_Missense_Mutation_p.M634I	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	737					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCGCTTTTTCATGCTCCGTC	0.453000														21			4		0	0	0.009096	0	0
MAD1L1	8379	broad.mit.edu	37	7	2262315	2262315	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:2262315C>T	uc003slh.1	-	4	632	c.366G>A	c.(364-366)gaG>gaA	p.E122E	MAD1L1_uc003slf.1_Silent_p.E122E|MAD1L1_uc003slg.1_Silent_p.E122E|MAD1L1_uc010ksh.1_Silent_p.E122E|MAD1L1_uc003sli.1_5'UTR|MAD1L1_uc010ksi.1_Silent_p.E75E|MAD1L1_uc010ksj.3_Silent_p.E122E	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	122					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCTGCATCTTCTCCTCCGCCC	0.622000														43			6		0	0	0.021553	0	0
DNAH5	1767	broad.mit.edu	37	5	13708295	13708295	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:13708295G>A	uc003jfd.2	-	75	13317	c.13275C>T	c.(13273-13275)agC>agT	p.S4425S	DNAH5_uc003jfc.2_Silent_p.S593S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4425					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)					GCAGATTTTCGCTCATGATGA	0.463000									Kartagener syndrome					209			25		0	0	0.108266	0	0
CETP	1071	broad.mit.edu	37	16	56997015	56997015	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:56997015A>G	uc002eki.2	+	1	269	c.212A>G	c.(211-213)cAa>cGa	p.Q71R	CETP_uc002ekj.2_Missense_Mutation_p.Q71R	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	71					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTCCTTGGCCAAGTCAAGTAT	0.627000														60			5		0	0	0.029380	0	0
FLNB	2317	broad.mit.edu	37	3	58064483	58064483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:58064483C>T	uc003djj.2	+	2	746	c.581C>T	c.(580-582)cCt>cTt	p.P194L	FLNB_uc010hne.2_Missense_Mutation_p.P194L|FLNB_uc003djk.2_Missense_Mutation_p.P194L|FLNB_uc010hnf.2_Missense_Mutation_p.P194L|FLNB_uc003djl.2_Missense_Mutation_p.P25L|FLNB_uc003djm.2_Missense_Mutation_p.P25L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	194	Actin-binding.|CH 2.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGCAGAAGCCTGTGGATAAT	0.532000														30			6		0	0	0.038147	0	0
ZNF658	26149	broad.mit.edu	37	9	40773139	40773139	+	Silent	SNP	T	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:40773139T>C	uc004abs.2	-	4	2288	c.2136A>G	c.(2134-2136)aaA>aaG	p.K712K	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Silent_p.K712K	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTCATAGGGTTTCTCCCCCG	0.403000														387			66		0	0	0.139131	0	0
ARID2	196528	broad.mit.edu	37	12	46231200	46231200	+	Splice_Site	SNP	G	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:46231200G>C	uc001ros.1	+	9	1120	c.1120_splice	c.e9+1	p.G374_splice	ARID2_uc001ror.3_Splice_Site_p.G374_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.G20_splice|ARID2_uc001rot.1_Splice_Site_p.G20_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	374					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAAGATGAGAGGTGAGTTTTC	0.308000			"""N, S, F"""		hepatocellular carcinoma									57			8		0	0	0.038147	0	0
DNAJB14	79982	broad.mit.edu	37	4	100851674	100851674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:100851674C>T	uc003hvl.3	-	1	389	c.238G>A	c.(238-240)Gac>Aac	p.D80N	DNAJB14_uc003hvk.3_5'UTR|DNAJB14_uc010ili.3_Intron|DNAJB14_uc003hvm.3_Missense_Mutation_p.D80N	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 14 (DNAJB14), transcript variant 1, mRNA.	80					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GATGTGCTGTCCTTTGTGCAA	0.413000														243			9		0	0	0.069234	0	0
NLRP11	204801	broad.mit.edu	37	19	56300216	56300216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:56300216G>A	uc010ygf.2	-	10	3523	c.2812C>T	c.(2812-2814)Ctt>Ttt	p.L938F	NLRP11_uc002qlz.3_Missense_Mutation_p.L785F|NLRP11_uc002qmb.3_Missense_Mutation_p.L839F|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	938							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AAGCTCTCAAGAAGTTTTGCA	0.378000														76			5		0	0	0.021553	0	0
FRYL	285527	broad.mit.edu	37	4	48503669	48503670	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:48503669_48503670GG>AA	uc003gyh.1	-	61	9167_9168	c.8562_8563CC>TT	c.(8560-8565)aaccaa>aaTTaa	p.Q2855*	FRYL_uc003gye.1_Nonsense_Mutation_p.Q37*|FRYL_uc003gyf.1_Nonsense_Mutation_p.Q245*|FRYL_uc003gyg.1_Nonsense_Mutation_p.Q1545*	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2855					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTATTTACTTGGTTGATAAGTT	0.297000														159			21		0	0	0.115264	0	0
POU2F1	5451	broad.mit.edu	37	1	167343473	167343473	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:167343473C>T	uc001gec.3	+	6	701	c.462C>T	c.(460-462)tcC>tcT	p.S154S	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.S177S|POU2F1_uc010plh.2_Intron|POU2F1_uc001ged.3_Silent_p.S152S|POU2F1_uc001gef.3_Silent_p.S166S|POU2F1_uc001geg.3_Silent_p.S52S	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	154					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CCACCATCTCCGCCTCTGCTG	0.622000														22			4		0	0	0.021553	0	0
OR10A3	26496	broad.mit.edu	37	11	7960551	7960551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:7960551C>T	uc010rbi.2	-	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATTAATTTCATTGGGGCCA	0.413000														74			7		0	0	0.058154	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507125	95507125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:95507125G>A	uc003ygo.2	-	19	4675	c.4604C>T	c.(4603-4605)cCa>cTa	p.P1535L	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1535					RNA splicing|mRNA processing	nucleus		p.P1535P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGCCTGAAATGGAGTGAACCA	0.323000														258			35		0	0	0.098360	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696930	50696930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:50696930G>A	uc003paf.3	+	4	1300	c.788G>A	c.(787-789)cGc>cAc	p.R263H	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	263							DNA binding|sequence-specific DNA binding transcription factor activity	p.R263P(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AATGGGGGCCGCTGCCTGAGA	0.418000														127			4		0	0	0.009096	0	0
PLCG1	5335	broad.mit.edu	37	20	39792068	39792068	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr20:39792068C>T	uc002xjp.1	+	8	961	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PLCG1_uc002xjo.1_Silent_p.F280F|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	280					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGCTCAGCTTCCTCCGAGACC	0.557000														53			4		0	0	0.038147	0	0
NARF	26502	broad.mit.edu	37	17	80445854	80445854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:80445854C>T	uc010dit.3	+	12	1467	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	NARF_uc002kff.4_Missense_Mutation_p.R339W|NARF_uc002kfg.4_Missense_Mutation_p.R398W|NARF_uc002kfj.4_Missense_Mutation_p.R350W	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	398						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGCCCTGCTGCGGCAGATGGA	0.567000														94			4		0	0	0.009096	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683354	140683354	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140683354C>A	uc003ljf.3	-	0	259	c.79G>T	c.(79-81)Ggg>Tgg	p.G27W		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	27					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGGGCTGCCCAGTCAGTACA	0.592000														72			6		0.00448238	0.00456673	0.047766	1	0
C1QTNF7	114905	broad.mit.edu	37	4	15444216	15444216	+	Silent	SNP	C	T	T	rs140722077	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr4:15444216C>T	uc003gno.3	+	2	943	c.684C>T	c.(682-684)ttC>ttT	p.F228F	C1QTNF7_uc011bxb.2_Silent_p.F221F|C1QTNF7_uc003gnp.3_Silent_p.F221F	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	221	C1q.					collagen		p.F221F(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TAAAGACCTTCGACGCCAACA	0.463000														121			6		0	0	0.047766	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031964	132031964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:132031964G>A	uc011ece.2	-	0	194	c.194C>T	c.(193-195)tCg>tTg	p.S65L	ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	Homo sapiens CTAGE family, member 9 (CTAGE9), mRNA.	65						integral to membrane				endometrium(1)|lung(1)	2						ACTCCTAACCGATCTAAAACT	0.388000														44			7		0	0	0.038147	0	0
TAS2R5	54429	broad.mit.edu	37	7	141491019	141491019	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:141491019C>T	uc003vwr.1	+	0	1003	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	286					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GTCAGAAGATCCTGTGGAAGA	0.493000														112			14		0	0	0.132662	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814757	54814757	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:54814757C>T	uc002lgm.3	+	0	465	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		TTACCAAAACCTGAGCCAGAA	0.542000														19			3		0	0	0.115264	0	0
GYPC	2995	broad.mit.edu	37	2	127453655	127453655	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:127453655C>T	uc002tnq.3	+	3	480	c.324C>T	c.(322-324)gcC>gcT	p.A108A	GYPC_uc002tnr.3_Silent_p.A89A|GYPC_uc010flv.3_Non-coding_Transcript	NM_002101	NP_002092	P04921	GLPC_HUMAN	Homo sapiens glycophorin C (Gerbich blood group) (GYPC), transcript variant 1, mRNA.	108						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CAGATGCAGCCCTGCAGGGAG	0.562000														60			7		0	0	0.029380	0	0
LRRN1	57633	broad.mit.edu	37	3	3886713	3886713	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:3886713C>T	uc003bpt.4	+	1	1149	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Nonsense_Mutation_p.Q130*	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	130						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGAGGAAAATCAGATTACCGA	0.423000														66			5		0	0	0.014758	0	0
RGPD3	653489	broad.mit.edu	37	2	107041192	107041192	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:107041192C>T	uc010ywi.1	-	19	3288	c.3231G>A	c.(3229-3231)tgG>tgA	p.W1077*		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1077	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCCTTTCTTTCCACTGACTTA	0.383000														458			27		0	0	0.064281	0	0
LEPR	3953	broad.mit.edu	37	1	66075721	66075721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:66075721G>A	uc001dci.3	+	12	2233	c.1844G>A	c.(1843-1845)aGg>aAg	p.R615K	LEPR_uc001dcg.3_Missense_Mutation_p.R615K|LEPR_uc001dch.3_Missense_Mutation_p.R615K|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.R615K|LEPR_uc001dcj.3_Missense_Mutation_p.R615K|LEPR_uc001dck.3_Missense_Mutation_p.R615K	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	615	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CGCTGTAAGAGGCTAGATGGA	0.403000														177			18		0	0	0.043863	0	0
PNCK	139728	broad.mit.edu	37	X	152936406	152936406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:152936406C>T	uc011myu.2	-	8	1208	c.1022G>A	c.(1021-1023)aGg>aAg	p.R341K	PNCK_uc011myt.2_Missense_Mutation_p.R275K|PNCK_uc004fhz.4_Missense_Mutation_p.R156K	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	258						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGTGAACCTCTTCTGGGG	0.642000														37			6		0	0	0.038147	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149225417	149225417	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:149225417T>A	uc003lrc.3	+	10	3002	c.2911T>A	c.(2911-2913)Tcc>Acc	p.S971T	PPARGC1B_uc003lrb.2_Missense_Mutation_p.S971T|PPARGC1B_uc003lrd.3_Missense_Mutation_p.S932T|PPARGC1B_uc021yfr.1_Missense_Mutation_p.S907T|PPARGC1B_uc003lre.1_Missense_Mutation_p.S950T|PPARGC1B_uc003lrf.3_Missense_Mutation_p.S950T	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	971	RRM.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAACGAGCCCTCCTTCCAGCT	0.597000														64			5		0	0	0.014758	0	0
APBA1	320	broad.mit.edu	37	9	72055928	72055928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:72055928C>T	uc004ahh.2	-	10	2561	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	762	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATTCTGGACGCTGAAACCGAG	0.483000														131			28		0	0	0.074837	0	0
MYH14	79784	broad.mit.edu	37	19	50792717	50792717	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:50792717C>G	uc010enu.1	+	34	4824	c.4777C>G	c.(4777-4779)Cgg>Ggg	p.R1593G	MYH14_uc002prq.1_Missense_Mutation_p.R1560G|MYH14_uc002prr.1_Missense_Mutation_p.R1552G|MYH14_uc010ycb.2_5'UTR|MYH14_uc002prs.1_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1552					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACGAGCCTGCCGGGTAGCAGA	0.602000														22			6		0	0	0.029380	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890435	88890435	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:88890435C>A	uc002stc.4	-	4	1205	c.903G>T	c.(901-903)caG>caT	p.Q301H		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	301					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGGCAGCTTCCTGTTCTTCCA	0.423000														100			7		1.12685e-05	1.15426e-05	0.047766	1	0
KBTBD12	166348	broad.mit.edu	37	3	127642062	127642062	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:127642062G>T	uc010hsr.3	+	0	161	c.158G>T	c.(157-159)aGc>aTc	p.S53I	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_5'Flank|KBTBD12_uc003ejz.2_Missense_Mutation_p.S53I	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	53	BTB.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GCTGCATTTAGCCCTTATTTC	0.393000														49			3		0.00909568	0.00924199	0.009096	1	0
DEF8	54849	broad.mit.edu	37	16	90023927	90023927	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:90023927C>T	uc002fpn.2	+	4	547	c.414C>T	c.(412-414)ttC>ttT	p.F138F	DEF8_uc021tmu.1_Silent_p.F77F|DEF8_uc002fpl.3_Silent_p.F77F|DEF8_uc002fpm.3_Silent_p.F77F|DEF8_uc002fpo.2_Silent_p.F77F|DEF8_uc002fpp.2_Intron|DEF8_uc021tmv.1_Silent_p.F77F|DEF8_uc010vpq.2_Silent_p.F17F|DEF8_uc010vpr.2_Silent_p.F77F	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	138					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGGGTCTGTTCCTGGCCTCTG	0.657000														11			4		0	0	0.014758	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574511	140574511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:140574511G>A	uc003lix.3	+	0	2560	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	796					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATAGCTTTGGATTTAATAT	0.353000														30			6		0	0	0.038147	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103504564	103504564	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr13:103504564T>C	uc001vpu.2	+	9	1669	c.1547T>C	c.(1546-1548)cTc>cCc	p.L516P	BIVM-ERCC5_uc010tjb.2_Missense_Mutation_p.L62P|BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.L62P|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_5'UTR	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	487					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TTTCATCGGCTCTGCAAACTC	0.388000														56			3		0	0	0.115264	0	0
INPP5A	3632	broad.mit.edu	37	10	134563053	134563053	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:134563053C>T	uc001llp.3	+	9	1013	c.765C>T	c.(763-765)gtC>gtT	p.V255V	INPP5A_uc001llo.1_Silent_p.V255V|INPP5A_uc001llq.3_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	255					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGCAGACGGTCCGGGCCGCCG	0.622000														60			3		0	0	0.009096	0	0
PIK3CA	5290	broad.mit.edu	37	3	178922366	178922366	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:178922366T>A	uc003fjk.3	+	5	1292	c.1135T>A	c.(1135-1137)Tcc>Acc	p.S379T		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	379	C2 PI3K-type.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C378R(5)|p.C378Y(1)|p.C378F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGTACCTTGTTCCAATCCCAG	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				94			16		0	0	0.062417	0	0
FASN	2194	broad.mit.edu	37	17	80045901	80045901	+	Missense_Mutation	SNP	G	A	A	rs146356200		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:80045901G>A	uc002kdu.3	-	17	2912	c.2795C>T	c.(2794-2796)tCc>tTc	p.S932F	FASN_uc002kdw.1_Missense_Mutation_p.S148F	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	932					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.S932S(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TACCTCCAGGGACACTGTCCC	0.667000														53			16		0	0	0.043863	0	0
BIRC6	57448	broad.mit.edu	37	2	32740645	32740645	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:32740645G>T	uc010ezu.3	+	54	11291	c.11157G>T	c.(11155-11157)ttG>ttT	p.L3719F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3719					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGTTTTTATTGTGTCACTCTG	0.423000														65			8		1.06961e-07	1.10159e-07	0.038147	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130343086	130343086	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:130343086C>T	uc010scd.2	+	7	2223	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	741	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACGGGCATTTCGTGGTGTCGG	0.637000														93			8		0	0	0.069234	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306986	120306986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:120306986G>A	uc001eid.3	-	1	456	c.368C>T	c.(367-369)tCt>tTt	p.S123F	HMGCS2_uc010oxj.2_Missense_Mutation_p.S123F|HMGCS2_uc021osx.1_Missense_Mutation_p.S31F	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	123					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCTGCCCACAGAGTCCCATGG	0.537000														103			14		0	0	0.033300	0	0
DHX16	8449	broad.mit.edu	37	6	30640560	30640560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:30640560C>T	uc003nqz.3	-	0	271	c.59G>A	c.(58-60)gGg>gAg	p.G20E	DHX16_uc011dmo.2_Intron	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	20					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CTCGCTCAGCCCCAACACCGA	0.672000														45			6		0	0	0.038147	0	0
GAB4	128954	broad.mit.edu	37	22	17445656	17445656	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:17445656C>T	uc002zlw.3	-	8	1584	c.1476_splice	c.e8+1	p.P492_splice		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	492										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AAGGACTCACCGGGAAAAGAT	0.572000														40			5		0	0	0.029380	0	0
HDAC2	3066	broad.mit.edu	37	6	114274470	114274470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:114274470C>T	uc003pwd.2	-	5	897	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	HDAC2_uc003pwc.2_Missense_Mutation_p.E174K|HDAC2_uc003pwe.2_Missense_Mutation_p.E174K	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	204	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GGAAAGTATTCCCCATATTTA	0.348000														187			14		0	0	0.043863	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239686	160239686	+	Splice_Site	SNP	C	T	T	rs142457687	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:160239686C>T	uc003qsy.1	+	16	1296	c.1257_splice	c.e16+1	p.I419_splice	PNLDC1_uc003qsx.1_Splice_Site_p.I408_splice	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	408						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCCCAAAGATCGTGAGTAGAT	0.582000														50			4		0	0	0.009096	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671598	84671598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr7:84671598C>T	uc003uic.3	-	7	905	c.865G>A	c.(865-867)Gat>Aat	p.D289N	SEMA3D_uc010led.3_Missense_Mutation_p.D289N|SEMA3D_uc003uib.3_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	289	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCTCCTACATCATTCTGACAT	0.373000														178			19		0	0	0.038395	0	0
NUP160	23279	broad.mit.edu	37	11	47830020	47830020	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:47830020G>T	uc001ngm.3	-	17	2388	c.2303C>A	c.(2302-2304)cCc>cAc	p.P768H	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.P768H	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	768					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding	p.P768S(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TAAGAGTAGGGGAGCTGTTCG	0.408000														61			5		2.0095e-06	2.06396e-06	0.029380	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120292521	120292521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:120292521C>T	uc001pxl.2	+	5	643	c.308C>T	c.(307-309)gCc>gTc	p.A103V	ARHGEF12_uc009zat.3_Missense_Mutation_p.A84V|ARHGEF12_uc010rzn.1_5'UTR|ARHGEF12_uc009zau.1_5'UTR|ARHGEF12_uc021qrm.1_Missense_Mutation_p.A84V	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	103	PDZ.				G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GATGGAGCAGCCATGCGGGCT	0.358000			T	MLL	AML									98			13		0	0	0.105934	0	0
NTF3	4908	broad.mit.edu	37	12	5603796	5603796	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:5603796A>G	uc001qnl.4	+	0	499	c.416A>G	c.(415-417)tAc>tGc	p.Y139C	NTF3_uc001qnk.4_Missense_Mutation_p.Y152C	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	139					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R138W(1)|p.R138Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGGAAACGGTACGCGGAGCAT	0.602000														102			21		0	0	0.083992	0	0
CEP76	79959	broad.mit.edu	37	18	12699056	12699056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr18:12699056G>A	uc002kri.3	-	3	598	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	148					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTTAGAACGAAAACGTTGG	0.373000														56			13		0	0	0.119110	0	0
SALL1	6299	broad.mit.edu	37	16	51172617	51172617	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr16:51172617C>T	uc021tif.1	-	1	3547	c.3225G>A	c.(3223-3225)acG>acA	p.T1075T	SALL1_uc021tid.1_Silent_p.T1075T|SALL1_uc021tie.1_Silent_p.T1172T|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1172					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	p.A1074V(1)		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)			TGCCTTTAGTCGTGAAAGCTC	0.488000														50			7		0	0	0.058154	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494147	45494147	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:45494147C>T	uc002pai.3	+	10	1417	c.1363C>T	c.(1363-1365)Cta>Tta	p.L455L	CLPTM1_uc010xxf.2_Silent_p.L353L|CLPTM1_uc010xxg.2_Silent_p.L441L|CLPTM1_uc021uvo.1_5'Flank	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	455					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTTCCCCCGCCTATCCTTCAA	0.582000														52			10		0	0	0.093190	0	0
NEBL	10529	broad.mit.edu	37	10	21074778	21074778	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:21074778G>A	uc001iqi.3	-	27	3340	c.2943C>T	c.(2941-2943)atC>atT	p.I981I	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.I237I|NEBL_uc021pnu.1_3'UTR	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	981	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle	p.I981I(2)		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						GCACGTTGACGATGTAGTCGC	0.493000														38			10		0	0	0.080935	0	0
C6orf10	10665	broad.mit.edu	37	6	32261003	32261003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:32261003C>T	uc021yvt.1	-	22	1620	c.1447G>A	c.(1447-1449)Gga>Aga	p.G483R	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.G400R|C6orf10_uc011dpz.2_Missense_Mutation_p.G481R|C6orf10_uc021yvu.1_Missense_Mutation_p.G481R|C6orf10_uc021yvv.1_Missense_Mutation_p.G467R	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	483	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GCTTCCTGTCCTTTTAGTACA	0.383000														160			20		0	0	0.069288	0	0
DLAT	1737	broad.mit.edu	37	11	111896990	111896990	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:111896990G>A	uc001pmo.3	+	1	1007	c.348G>A	c.(346-348)ggG>ggA	p.G116G	DLAT_uc010rwr.2_Silent_p.G116G|DLAT_uc021qqn.1_Silent_p.G60G	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	116	Lipoyl-binding 1.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	p.E115fs*10(1)|p.E115fs*7(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AAAAAGAGGGGGACAAAATCA	0.338000														23			3		0	0	0.009096	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811112	106811112	+	Silent	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr8:106811112C>T	uc003ymd.3	+	6	923	c.900C>T	c.(898-900)ttC>ttT	p.F300F	ZFPM2_uc011lhs.2_Silent_p.F31F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	300					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGTGCCCCTTCCCACAGTGCA	0.488000														146			12		0	0	0.033300	0	0
SLC46A1	113235	broad.mit.edu	37	17	26727669	26727669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:26727669G>A	uc002hbf.2	-	4	1377	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	SARM1_uc010crl.1_3'UTR|SARM1_uc002hbe.1_3'UTR|SLC46A1_uc021ttr.1_Missense_Mutation_p.L399F	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.	427					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GCTCCCAGGAGGAAGGGGAAC	0.552000														22			6		0	0	0.021553	0	0
SFI1	9814	broad.mit.edu	37	22	32009698	32009698	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:32009698G>A	uc003ale.3	+	26	3246	c.2853G>A	c.(2851-2853)agG>agA	p.R951R	SFI1_uc003alf.3_Silent_p.R920R|SFI1_uc003alg.3_Silent_p.R869R|SFI1_uc011alp.2_Silent_p.R857R|SFI1_uc011alq.2_Silent_p.R896R|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_5'Flank|SFI1_uc003alj.3_5'Flank	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	951					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CACCCAGCAGGAAAGTGACGT	0.652000											OREG0003527	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		18			5		0	0	0.038147	0	0
CPN2	1370	broad.mit.edu	37	3	194061987	194061987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr3:194061987G>A	uc003fts.3	-	1	1535	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	CPN2_uc021xix.1_Missense_Mutation_p.T482I	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	482					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GTTGCTGTAGGTGCACTGGCT	0.672000														81			13		0	0	0.105934	0	0
MYH1	4619	broad.mit.edu	37	17	10411809	10411810	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr17:10411809_10411810CC>TT	uc002gmo.3	-	15	1861_1862	c.1767_1768GG>AA	c.(1765-1770)gtggac>gtAAac	p.D590N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	590	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGTTGTAGTCCACGGTGCCAG	0.510000														67			6		0	0	0.115264	0	0
EPS8L1	54869	broad.mit.edu	37	19	55589497	55589497	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:55589497G>A	uc002qis.4	+	3	162	c.58_splice	c.e3+1	p.E20_splice	EPS8L1_uc010ess.1_Intron|EPS8L1_uc010est.1_Splice_Site_p.E20_splice|EPS8L1_uc010yfr.2_Intron|EPS8L1_uc010esu.1_Splice_Site|EPS8L1_uc002qiu.3_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	20						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TCTATCTATGGTGAGCGGGGG	0.587000														40			9		0	0	0.069234	0	0
INADL	10207	broad.mit.edu	37	1	62330219	62330219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr1:62330219G>A	uc001dab.3	+	19	2863	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	INADL_uc009waf.1_Missense_Mutation_p.E917K|INADL_uc001daa.2_Missense_Mutation_p.E917K|INADL_uc001dad.3_Missense_Mutation_p.E614K|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	917					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						GCATGATAATGAACCATCCGA	0.488000														122			14		0	0	0.038395	0	0
DPP10	57628	broad.mit.edu	37	2	116283490	116283490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr2:116283490C>T	uc002tle.3	+	4	416	c.395C>T	c.(394-396)tCa>tTa	p.S132L	DPP10_uc002tla.2_Missense_Mutation_p.S128L|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Missense_Mutation_p.S78L|DPP10_uc002tlc.2_Missense_Mutation_p.S124L|DPP10_uc002tlf.2_Missense_Mutation_p.S121L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	128					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCAAAGCATCAAGACATTCA	0.279000														23			4		0	0	0.009096	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034661	16034661	+	Silent	SNP	G	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:16034661G>A	uc002nbu.2	-	6	915	c.879C>T	c.(877-879)tcC>tcT	p.S293S	CYP4F11_uc010eab.1_Silent_p.S293S|CYP4F11_uc002nbt.2_Silent_p.S293S	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	293					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTAAAGTCTTGGACTTTGCCT	0.493000														143			18		0	0	0.062417	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr12:46230641C>T	uc001ros.1	+	7	890	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_uc001ror.3_Missense_Mutation_p.S297F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma									88			15		0	0	0.038395	0	0
GPR98	84059	broad.mit.edu	37	5	89924464	89924464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr5:89924464C>T	uc003kju.3	+	7	1420	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	442					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)		CAGCACTGATCCCTCACCAGT	0.438000														83			11		0	0	0.093190	0	0
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr6:43323502delT	uc003oux.3	-	3	1648	c.1570delA	c.(1570-1572)aggfs	p.R524fs	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	524					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													---	348	---	---	8	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr9:130953109_130953111delGCT	uc011mas.2	-	1	281_283	c.116_118delAGC	c.(115-120)cagctc>ctc	p.Q39del	CIZ1_uc004btr.3_In_Frame_Del_p.Q9del|CIZ1_uc004bts.3_In_Frame_Del_p.Q9del|CIZ1_uc011maq.2_In_Frame_Del_p.Q9del|CIZ1_uc004btu.3_In_Frame_Del_p.Q9del|CIZ1_uc004btt.3_In_Frame_Del_p.Q9del|CIZ1_uc011mar.2_5'UTR|CIZ1_uc004btw.3_In_Frame_Del_p.Q9del|CIZ1_uc004btv.3_In_Frame_Del_p.Q9del|CIZ1_uc004btx.2_In_Frame_Del_p.Q9del	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	9	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													---	5	---	---	3	---					
PTEN	5728	broad.mit.edu	37	10	89692971	89692972	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr10:89692971_89692972insA	uc001kfb.3	+	4	1487_1488	c.455_456insA	c.(454-456)ctafs	p.L152fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	152	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A151T(5)|p.L152P(4)|p.Y27fs*1(2)|p.L152R(2)|p.Y27_N212>Y(2)|p.A151D(1)|p.L152V(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAGAGGCCCTAGATTTCTATG	0.381		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	78	---	---	8	---					
SCUBE2	57758	broad.mit.edu	37	11	9113009	9113011	+	In_Frame_Del	DEL	GCA	-	-	rs72509739		TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:9113009_9113011delGCA	uc001mhi.2	-	0	140_142	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del	SCUBE2_uc001mhj.2_In_Frame_Del_p.L22del|KRT8P41_uc010rbv.1_5'Flank	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	22						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		agcagtggcggcagcagcagcag	0.788													---	2	---	---	4	---					
BBS1	582	broad.mit.edu	37	11	66299205	66299209	+	Frame_Shift_Del	DEL	ATCAT	-	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr11:66299205_66299209delATCAT	uc001oii.1	+	15	1876_1880	c.1798_1802delATCAT	c.(1798-1803)atcatcfs	p.I600fs	BBS1_uc001oil.1_Frame_Shift_Del_p.I434fs|BBS1_uc010rpg.1_Frame_Shift_Del_p.I466fs|BBS1_uc001oij.1_Frame_Shift_Del_p.I563fs|BBS1_uc001oik.1_Frame_Shift_Del_p.I487fs|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Frame_Shift_Del_p.I231fs	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	563					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CATCTCAGACATCATCAAGGTAGGC	0.561									Bardet-Biedl syndrome				---	138	---	---	11	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:36255947_36255949delCTC	uc021usz.1	+	6	712_714	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	218	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631													---	349	---	---	7	---					
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr19:49978960_49978962delCTG	uc002pnu.3	+	2	156_158	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_uc002pnw.3_5'UTR|FLT3LG_uc010yau.2_In_Frame_Del_p.L20del|FLT3LG_uc002pnv.3_5'UTR|FLT3LG_uc002pnx.3_In_Frame_Del_p.L20del|FLT3LG_uc010yav.2_5'UTR	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													---	118	---	---	7	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chr22:30742328_30742330delCTG	uc003ahl.3	-	2	496_498	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													---	144	---	---	7	---					
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	-	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:21857869_21857871delTGG	uc004dae.3	+	0	214_216	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_uc004dab.2_In_Frame_Del_p.V11del	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	11					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													---	4	---	---	2	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A3JE-06A-11D-A20D-08	TCGA-EE-A3JE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926eb11d-b441-480d-ae96-8d746c05b61f	a38db221-5203-444d-afa1-b3c9ba6564f7	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													---	110	---	---	7	---					
