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
ESR2	2100	broad.mit.edu	37	14	64727379	64727379	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:64727379C>T	uc001xha.1	-	4	1208	c.740G>A	c.(739-741)aGa>aAa	p.R247K	ESR2_uc001xgy.2_Missense_Mutation_p.R247K|ESR2_uc001xgu.3_Missense_Mutation_p.R247K|ESR2_uc001xgv.3_Missense_Mutation_p.R247K|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.R247K|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.R247K|ESR2_uc001xgz.2_Missense_Mutation_p.R247K|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	247	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GCCGCCACTTCTCTTGGCCTT	0.667000														4			41		0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50960172	50960172	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:50960172A>G	uc003blx.4	+	11	1125	c.1003A>G	c.(1003-1005)Agg>Ggg	p.R335G	NCAPH2_uc003blv.3_Missense_Mutation_p.R335G|NCAPH2_uc003blr.4_Missense_Mutation_p.R335G	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	335					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GCCCCCAGGTAGGCCTTACTC	0.647000														41			34		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26513471	26513471	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:26513471C>T	uc001isp.2	+	5	1118	c.615C>T	c.(613-615)ttC>ttT	p.F205F	GAD2_uc001isq.2_Silent_p.F205F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	205					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ATTTCAGGTTCACCTATGAAA	0.363000														27			22		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355283	70355283	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:70355283C>T	uc003hek.4	-	2	923	c.876G>A	c.(874-876)atG>atA	p.M292I	UGT2B4_uc011cap.2_Missense_Mutation_p.M156I|UGT2B4_uc003hel.4_Missense_Mutation_p.M292I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	292				EME -> KWK (in Ref. 4; AAC32272).	estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAACTCTTCCATTTCCTGTG	0.363000														69			60		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032696	16032696	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:16032696C>T	uc010lsu.3	-	3	335	c.271_splice	c.e3+1	p.A91_splice	MSR1_uc003wwz.3_Splice_Site_p.A73_splice|MSR1_uc003wxa.3_Splice_Site_p.A73_splice|MSR1_uc003wxb.3_Splice_Site_p.A73_splice|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	73	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTTACGTTACCTGCCACTATT	0.418000														22			20		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100373734	100373734	+	Silent	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:100373734T>C	uc003duc.3	+	11	1703	c.1435T>C	c.(1435-1437)Ttg>Ctg	p.L479L	GPR128_uc011bhc.2_Silent_p.L180L|GPR128_uc003dud.3_Silent_p.L2L	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	479					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CATATCAATGTTGATTTTCAA	0.308000														66			50		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540382	5540382	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:5540382G>A	uc003soo.2	-	2	1612	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	FBXL18_uc003son.4_Silent_p.I506I	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	506									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGAGTTGCGGATGGCGGGCT	0.667000														9			8		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85564255	85564255	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:85564255G>A	uc011ccv.2	+	10	1609	c.1111G>A	c.(1111-1113)Ggc>Agc	p.G371S	CDS1_uc010ike.1_Intron	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	371					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CCCATTTGGAGGCTTCTTTGC	0.383000														91			78		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38897412	38897412	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:38897412G>A	uc021yzh.1	+	74	11353	c.11244G>A	c.(11242-11244)aaG>aaA	p.K3748K	DNAH8_uc003ooe.2_Silent_p.K3531K|DNAH8_uc003oog.1_5'UTR|LOC100131047_uc003oof.2_Intron	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						TATTAGAAAAGAATTTTATTA	0.353000														28			18		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73961533	73961533	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:73961533C>T	uc003uaq.3	+	16	2226	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	GTF2IRD1_uc010lbq.3_Silent_p.S643S|GTF2IRD1_uc003uap.3_Silent_p.S611S|GTF2IRD1_uc003uar.1_Silent_p.S611S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	611						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGGCATCTCCCTCCGCAGGC	0.587000														36			37		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51497448	51497448	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:51497448G>A	uc003pah.1	-	64	11856	c.11580C>T	c.(11578-11580)atC>atT	p.I3860I		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3860					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGCAGCCAGGATGATGGTCG	0.483000														29			28		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67636459	67636459	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:67636459G>A	uc002aqo.2	+	5	664	c.567G>A	c.(565-567)caG>caA	p.Q189Q	IQCH_uc010ujv.2_Silent_p.Q21Q|IQCH_uc002aqn.2_Silent_p.Q16Q|IQCH_uc002aqp.2_5'UTR|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	189										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTACCTTTCAGAATCCACCCA	0.393000														38			20		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621867	7621867	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:7621867G>A	uc021pmv.1	-	8	1375	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	ITIH5_uc021pmu.1_Silent_p.T209T|ITIH5_uc001ijr.2_Silent_p.T423T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	423	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGGCCTCTCGGGTGTTGTTGA	0.607000														37			32		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952315	16952315	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrY:16952315C>T	uc011nas.1	+	6	1863	c.1684C>T	c.(1684-1686)Cag>Tag	p.Q562*	NLGN4Y_uc004fte.2_Nonsense_Mutation_p.Q374*|NLGN4Y_uc004ftg.2_Nonsense_Mutation_p.Q542*|NLGN4Y_uc004ftf.2_Nonsense_Mutation_p.Q235*|NLGN4Y_uc004fth.2_Nonsense_Mutation_p.Q542*	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	542					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ACCAGTTCCTCAGGATACCAA	0.383000														10			64		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141243	114141243	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:114141243C>T	uc004epu.1	+	5	1370	c.642C>T	c.(640-642)ttC>ttT	p.F214F	HTR2C_uc010nqc.1_Silent_p.F214F|HTR2C_uc004epv.1_Missense_Mutation_p.R183C	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	214					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCCAAATTTCGTTCTTATTG	0.468000														15			162		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50936966	50936966	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:50936966C>T	uc002lfe.2	+	19	3696	c.3080C>T	c.(3079-3081)tCa>tTa	p.S1027L	DCC_uc010xdr.1_Missense_Mutation_p.S855L|DCC_uc010dpf.2_Missense_Mutation_p.S662L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1027	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCACGAAATTCAAAAGGAGTG	0.378000														59			44		0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21206905	21206905	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:21206905C>T	uc003zoq.1	-	0	238	c.192G>A	c.(190-192)gaG>gaA	p.E64E	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	64					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CATCAAACTCCTCCTGGGGGA	0.512000														109			68		0	0	1	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111824267	111824267	+	RNA	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:111824267C>T	uc009wgb.3	+	1		c.125C>T								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		ACCCCTGCCTCTGTACCCACT	0.532000														39			21		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155772	151155772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:151155772G>A	uc011bod.2	-	5	6577	c.6577C>T	c.(6577-6579)Cat>Tat	p.H2193Y	IGSF10_uc011bob.2_Missense_Mutation_p.H220Y|IGSF10_uc011boc.2_Missense_Mutation_p.H172Y	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2193	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCATTGGCATGAAATGTGTAC	0.443000														65			48		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133748	22133748	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:22133748G>A	uc010tmd.2	+	0	452	c.452G>A	c.(451-453)gGg>gAg	p.G151E		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTCTGGTTGGGGGGTACTGTT	0.483000														71			75		0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729357	116729357	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:116729357G>A	uc001ppy.3	-	19	2542	c.2506C>T	c.(2506-2508)Ctg>Ttg	p.L836L	SIK3_uc001ppz.3_Intron|SIK3_uc001pqa.3_Intron|SIK3_uc001ppw.3_Intron|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_Silent_p.L139L	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	836	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.P836S(1)		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						TCCGAAAACAGATGGGGGTGT	0.547000														62			39		0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54416194	54416194	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:54416194G>A	uc002qcr.2	+	0	204	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	CACNG7_uc010era.2_Missense_Mutation_p.E37K	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	37					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCTGTACATGGAAGAAGGCAC	0.627000														21			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593051	179593051	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179593051C>T	uc021vsy.1	-	63	15993	c.15768G>A	c.(15766-15768)atG>atA	p.M5256I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M1917I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6183	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGCACTCCATATGAATAG	0.378000														18			12		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266103	41266103	+	Missense_Mutation	SNP	G	A	A	rs121913399		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:41266103G>A	uc010hia.1	+	3	256	c.100G>A	c.(100-102)Gga>Aga	p.G34R	CTNNB1_uc003ckq.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckp.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G34R|CTNNB1_uc011azf.1_Missense_Mutation_p.G27R|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	34			G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G34R(185)|p.S33C(176)|p.A5_A80del(119)|p.S33F(103)|p.G34E(82)|p.G34V(80)|p.S33Y(62)|p.S33P(49)|p.S33A(16)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.H24_S47del(9)|p.W25_I140del(7)|p.V22_G38del(6)|p.T3_A126del(4)|p.S33L(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S33N(3)|p.S23_S33del(3)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.H24_G38del(2)|p.S29_H36del(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.W25_I35del(2)|p.GIHS34?(2)|p.A5_I35del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.W25_H36del(2)|p.V22_T102del(2)|p.S23_A39del(2)|p.A21_A80del(2)|p.Y30_S33del(2)|p.M14_S45del(2)|p.V22_S33del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.D32_H36>D(2)|p.S33_G34insGTS(2)|p.P16_K133del(2)|p.A5_T59del(2)|p.A20_I35del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.S33_S37del(2)|p.Y30_T40del(2)|p.S33_G34insGI(2)|p.A5_Q143>E(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.S23_I35del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D32_H36del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.S33T(1)|p.S33S(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.W25_S33del(1)|p.Q4_D144del(1)|p.S33_G34del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.G34_S37del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.S33_G34insS(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CCTGGACTCTGGAATCCATTC	0.488000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					18			20		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81249962	81249962	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:81249962A>T	uc002fgh.1	-	1	351	c.351T>A	c.(349-351)caT>caA	p.H117Q	PKD1L2_uc002fgj.3_Missense_Mutation_p.H117Q	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	117	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGCCCTCCATGCCAGTTGC	0.622000														47			33		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63411312	63411312	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:63411312G>A	uc022byb.1	-	0	1855	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	FAM123B_uc004dvo.3_Missense_Mutation_p.H619Y	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	619					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TCCCTGCCATGAGCTTCCCAA	0.632000														5			20		0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098544	38098544	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:38098544C>T	uc002yvr.2	+	5	724	c.668C>T	c.(667-669)aCc>aTc	p.T223I	SIM2_uc002yvq.3_Missense_Mutation_p.T223I	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	223	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AGTGCCATCACCGAGATCAAG	0.557000														41			35		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46338455	46338455	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:46338455G>A	uc002pdn.3	-	10	1519	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	SYMPK_uc002pdo.1_Missense_Mutation_p.A425V|SYMPK_uc002pdp.1_Missense_Mutation_p.A425V|SYMPK_uc002pdq.2_Missense_Mutation_p.A425V	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	425					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCTGGCATGGCCTCGGGTAG	0.567000														39			31		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75160974	75160974	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:75160974G>A	uc001owo.4	-	7	967	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	GDPD5_uc001owp.4_Nonsense_Mutation_p.Q144*|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Nonsense_Mutation_p.Q6*|GDPD5_uc009yud.3_Intron|GDPD5_uc009yue.1_Intron	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	144					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						TCCCACAGCTGGGCCACGGCC	0.647000														29			16		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390533	197390533	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:197390533C>T	uc001gtz.3	+	5	1784	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	CRB1_uc010poz.2_Silent_p.F456F|CRB1_uc009wza.3_Silent_p.F413F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F525F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F6F|CRB1_uc001gub.1_Silent_p.F174F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	525	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.F525S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCTACTTTTCCGAAGCAACA	0.453000														57			40		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673741	3673741	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:3673741C>T	uc002wja.3	-	13	3546	c.3546G>A	c.(3544-3546)gaG>gaA	p.E1182E	SIGLEC1_uc002wiz.4_Silent_p.E1182E|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1182	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGCCATGGCTCTCCAGGAGGT	0.692000														12			16		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980881	121980881	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:121980881C>T	uc003eew.4	+	3	1437	c.999C>T	c.(997-999)ttC>ttT	p.F333F	CASR_uc003eev.4_Silent_p.F333F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	333					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCGGGAATTCCTGAAGAAGG	0.537000														40			33		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	A	A	rs146807462		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:24895592G>A	uc001upj.3	+	3	749	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	230	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428000														120			65		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77657042	77657042	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:77657042C>T	uc011bgk.2	+	21	3885	c.3242C>T	c.(3241-3243)cCc>cTc	p.P1081L	ROBO2_uc021xat.1_Missense_Mutation_p.P1093L|ROBO2_uc003dpy.4_Missense_Mutation_p.P1077L|ROBO2_uc003dpz.3_Missense_Mutation_p.P1081L|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.P204L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1077					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTACCTCCCCCCCCAGTCCAG	0.453000														21			25		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325685	152325685	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:152325685C>T	uc001ezw.4	-	2	4650	c.4577G>A	c.(4576-4578)gGa>gAa	p.G1526E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1526							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTTGAGATCCACTTTGGCC	0.488000														236			156		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123514862	123514862	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:123514862C>T	uc010nqy.3	-	31	7787	c.7723G>A	c.(7723-7725)Gag>Aag	p.E2575K	ODZ1_uc011muj.2_Missense_Mutation_p.E2574K|ODZ1_uc004euj.3_Missense_Mutation_p.E2568K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2568					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCCCTCCCCTCTATGGTAAAA	0.483000														8			57		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505760	60505760	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:60505760G>A	uc001czs.2	-	4	684	c.576C>T	c.(574-576)tcC>tcT	p.S192S		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	192							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTAATAAGTTGGAACTCAAAG	0.453000														52			36		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694346	49694346	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:49694346G>A	uc003cxe.4	+	4	7471	c.7357G>A	c.(7357-7359)Gag>Aag	p.E2453K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2453					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		tctgcagctggagcagatcca	0.622000														6			7		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679727	53679727	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:53679727G>A	uc002ehp.3	-	16	2557	c.2493C>T	c.(2491-2493)ccC>ccT	p.P831P	RPGRIP1L_uc002eho.4_Silent_p.P831P|RPGRIP1L_uc010vgy.2_Silent_p.P831P|RPGRIP1L_uc010cbx.3_Silent_p.P831P|RPGRIP1L_uc010vgz.1_Silent_p.P831P	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	831	C2 2.				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)				CATTGCTACTGGGAATGATAG	0.433000														90			53		0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17489585	17489585	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:17489585G>A	uc002wpo.3	-	4	723	c.684C>T	c.(682-684)ggC>ggT	p.G228G	BFSP1_uc002wpp.3_Silent_p.G103G|BFSP1_uc010zrn.2_Silent_p.G89G|BFSP1_uc010zro.2_Silent_p.G89G	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	228	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GCACCTCCCGGCCCTCCTCCA	0.637000														8			6		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72147133	72147133	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:72147133G>A	uc021rkj.1	-	3	1567	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	432	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATCATAAAAGGAAGTTCCAGT	0.398000														28			25		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43652459	43652459	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:43652459G>A	uc021omk.1	+	5	1197	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.E340K|WDR65_uc001ciq.2_Missense_Mutation_p.E351K|WDR65_uc001cip.2_Missense_Mutation_p.E351K	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	351										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCTCAGAGGAAACTCTGGT	0.512000														39			27		0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135083963	135083964	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:135083963_135083964CC>TT	uc021qbe.1	-	15	1771_1772	c.1685_1686GG>AA	c.(1684-1686)ggg>gAA	p.G562E	ADAM8_uc009ybi.3_Missense_Mutation_p.G562E|ADAM8_uc010qva.2_Missense_Mutation_p.G523E	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	523					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGATGGCACGCCCCAGGGGCTG	0.653000														36			25		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155087	98155087	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:98155087G>A	uc001kml.2	-	12	1824	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L	TLL2_uc009xvf.2_Missense_Mutation_p.P506L	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	528	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTCTTCCGTGGGGCCATCCCG	0.512000														50			36		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618614	156618614	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:156618614C>T	uc001fpp.3	+	5	1360	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	BCAN_uc001fpo.3_Missense_Mutation_p.P342S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	342	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACTGGCTTCCCCAATAAGCA	0.577000														104			68		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870209	151870209	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:151870209C>T	uc022chf.1	+	0	899	c.899C>T	c.(898-900)tCc>tTc	p.S300F	MAGEA6_uc004ffq.1_Missense_Mutation_p.S300F|MAGEA6_uc004ffr.1_Missense_Mutation_p.S300F	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	300	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCATTTCCTACCCACTC	0.562000														8			81		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064586	78064586	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:78064586G>C	uc002ffh.4	+	2	523	c.442G>C	c.(442-444)Gct>Cct	p.A148P	CLEC3A_uc021tlr.1_Missense_Mutation_p.A96P	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	148	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CAACGGAATCGCTATCTCCTT	0.517000														56			37		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142476634	142476634	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:142476634G>A	uc003ywi.2	-	18	2433	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	784							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGCACAGGCGGAGGCGGATGG	0.667000														22			12		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155025185	155025186	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:155025185_155025186CC>TT	uc001fgr.1	+	1	219_220	c.118_119CC>TT	c.(118-120)ccg>TTg	p.P40L	LOC100505666_uc021pam.1_5'Flank|LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Nonsense_Mutation_p.R50*|ADAM15_uc010peu.1_Missense_Mutation_p.P57L|ADAM15_uc001fgx.1_Missense_Mutation_p.P40L|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.P40L|ADAM15_uc001fgs.1_Missense_Mutation_p.P40L|ADAM15_uc010pev.1_Missense_Mutation_p.P50L|ADAM15_uc001fgu.1_Missense_Mutation_p.P40L|ADAM15_uc001fgv.1_Missense_Mutation_p.P40L|ADAM15_uc001fgw.1_Missense_Mutation_p.P40L	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	40					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			AGAGAAGGCCCCGAGGGAGCCC	0.579000											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			4		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752784	41752784	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:41752784C>T	uc003azw.3	+	21	2869	c.2653C>T	c.(2653-2655)Ccc>Tcc	p.P885S		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	901					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTCCGCTTCCCCATGGGCGA	0.657000														61			42		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25243107	25243107	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:25243107C>T	uc001rgh.3	+	12	1676	c.582C>T	c.(580-582)atC>atT	p.I194I	LRMP_uc010sja.2_Silent_p.I194I|LRMP_uc010sjc.2_Silent_p.I194I|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Silent_p.I141I|LRMP_uc010sjd.2_Silent_p.I141I	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	250					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AGAAAGAAATCACTAACTGTT	0.403000														29			32		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121340767	121340767	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:121340767A>G	uc001pxx.3	+	1	466	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	113					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCTGGAGAGAAAAGCAACGT	0.522000														44			44		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62985192	62985192	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:62985192G>A	uc001nwr.1	-	2	522	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.F174F	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	174					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ATCTGAGCACGAACTTTCTCC	0.498000														35			18		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870933	189870933	+	Splice_Site	SNP	G	A	A	rs121912916		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:189870933G>A	uc002uqj.1	+	42	3157	c.3040_splice	c.e42-1	p.G1014_splice		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1014	Triple-helical region.		G -> E (in EDS4).		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)	TTTAATCAGGGAAACCCTGGA	0.388000														24			28		0	0	1	0	0
RAB35	11021	broad.mit.edu	37	12	120534901	120534901	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:120534901G>A	uc009zww.2	-	6	1055	c.149C>T	c.(148-150)tCc>tTc	p.S50F	RAB35_uc001txm.2_3'UTR|RAB35_uc010szh.2_3'UTR			Q15286	RAB35_HUMAN	Homo sapiens RAB35, member RAS oncogene family (RAB35), transcript variant 1, mRNA.	0					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GGCGGGGGAGGAAGTGCCGAT	0.627000														0			12		0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140537261	140537261	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:140537261C>T	uc003lis.3	+	0	1682	c.1682C>T	c.(1681-1683)tCg>tTg	p.S561L						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		ACTCGCCCTTCGTGCTGTACC	0.711000														36			46		0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724853	138724853	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:138724853C>T	uc011bms.2	-	0	258	c.258G>A	c.(256-258)tcG>tcA	p.S86S		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	86										endometrium(3)|kidney(1)|lung(7)	11						CTCGCAGGATCGACGTTGGCG	0.662000														15			6		0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903859	11903859	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:11903859C>T	uc002wnz.3	+	3	1473	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	BTBD3_uc002wny.3_Missense_Mutation_p.P311S|BTBD3_uc002woa.3_Missense_Mutation_p.P311S|BTBD3_uc010zrf.2_Missense_Mutation_p.P221S|BTBD3_uc010zrg.2_Missense_Mutation_p.P221S|BTBD3_uc010zrh.2_Missense_Mutation_p.P221S	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	372										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GGGCCTTGTCCCCCAGCGCTG	0.502000														33			38		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675435	3675435	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:3675435G>A	uc002wja.3	-	10	2819	c.2819C>T	c.(2818-2820)tCg>tTg	p.S940L	SIGLEC1_uc002wiz.4_Missense_Mutation_p.S940L|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	940	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCCGAGGTCGACTCCTGGAG	0.622000														34			27		0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111781451	111781451	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:111781451C>T	uc001eam.3	+	7	886	c.815C>T	c.(814-816)tCc>tTc	p.S272F	CHI3L2_uc001ean.3_Missense_Mutation_p.S262F|CHI3L2_uc001eao.3_Missense_Mutation_p.S193F	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	272					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TATGGGCACTCCTTCACACTG	0.557000														79			61		0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37851831	37851831	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:37851831C>T	uc011byb.1	+	11	1512	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	PGM2_uc011byc.1_Missense_Mutation_p.S320F	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	480					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ACTAAAGCTTCCTATTTTATC	0.323000														14			15		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79373405	79373405	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:79373405C>T	uc003hlb.2	+	46	7100	c.6660C>T	c.(6658-6660)acC>acT	p.T2220T		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2219					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAATCACCACCCTGCAGCTGT	0.478000														39			35		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142506592	142506592	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:142506592G>A	uc003ywi.2	-	1	171	c.90C>T	c.(88-90)ccC>ccT	p.P30P	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	30							binding	p.P30P(1)				all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGAGACAGGGGGGGAGATTC	0.557000														22			25		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195490396	195490396	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:195490396G>A	uc021xjp.1	-	11	14317	c.14161C>T	c.(14161-14163)Cag>Tag	p.Q4721*	MUC4_uc003fuz.3_Nonsense_Mutation_p.Q319*|MUC4_uc003fva.3_Nonsense_Mutation_p.Q201*|MUC4_uc003fvb.3_Nonsense_Mutation_p.Q237*|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Nonsense_Mutation_p.Q237*|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Nonsense_Mutation_p.Q230*|MUC4_uc021xjn.1_Nonsense_Mutation_p.Q410*|MUC4_uc021xjo.1_Nonsense_Mutation_p.Q201*|MUC4_uc021xjg.1_Nonsense_Mutation_p.Q201*|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Nonsense_Mutation_p.Q285*|MUC4_uc021xjj.1_Nonsense_Mutation_p.Q285*|MUC4_uc021xjk.1_Nonsense_Mutation_p.Q462*|MUC4_uc021xjl.1_Nonsense_Mutation_p.Q201*|MUC4_uc003fvo.3_Nonsense_Mutation_p.Q485*|MUC4_uc003fvp.3_Nonsense_Mutation_p.Q434*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1478					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGCGGCCCTGAAGCAGGAAG	0.642000														8			8		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193061834	193061834	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:193061834C>T	uc011bsq.2	-	8	825	c.825G>A	c.(823-825)gaG>gaA	p.E275E		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	275					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.E274Q(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGGATTCCAGCTCCTCCAAAC	0.418000														16			21		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25399799	25399799	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:25399799G>A	uc001upr.3	+	15	2175	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	RNF17_uc010tdd.1_Missense_Mutation_p.E571K|RNF17_uc010tde.2_Missense_Mutation_p.E712K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E651K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	712					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GACAATCGAGGAATTCTATAA	0.353000														49			38		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684184	75684184	+	Missense_Mutation	SNP	C	T	T	rs143004355	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:75684184C>T	uc010oqz.1	-	15	1703	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	SLC44A5_uc001dgt.2_Missense_Mutation_p.R507Q|SLC44A5_uc001dgs.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgr.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgu.3_Missense_Mutation_p.R507Q|SLC44A5_uc010ora.2_Missense_Mutation_p.R501Q|SLC44A5_uc010orb.2_Missense_Mutation_p.R377Q	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	507						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCGTATGGCTCGTCCAAATGC	0.433000														107			88		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23634434	23634434	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:23634434G>A	uc002dlx.1	-	8	3052	c.2852C>T	c.(2851-2853)tCt>tTt	p.S951F		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	951	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTCATCATCAGAGGAACAAAA	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						31			11		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706783	189706783	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:189706783C>T	uc011bsk.2	-	3	1256	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	LEPREL1_uc003fsg.3_Missense_Mutation_p.E109K	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	290					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	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 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTGGCAAGTTCCCTCACACAT	0.507000														39			20		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103073	113103073	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:113103073G>A	uc021qqp.1	+	11	1866	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	NCAM1_uc001pnp.3_Silent_p.L462L|NCAM1_uc021qqo.1_Silent_p.L462L|NCAM1_uc001pnq.3_Silent_p.L472L|NCAM1_uc001pnr.3_Silent_p.L462L	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	474	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCAGCTATCTGGAGGTGAGTC	0.537000														31			27		0	0	1	0	0
PAGE4	9506	broad.mit.edu	37	X	49597218	49597218	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:49597218C>T	uc004don.1	+	3	336	c.257C>T	c.(256-258)cCa>cTa	p.P86L		NM_007003	NP_008934	O60829	GAGC1_HUMAN	Homo sapiens P antigen family, member 4 (prostate associated) (PAGE4), mRNA.	86												Ovarian(276;0.236)					GAGAAGACTCCACCTAATCCT	0.383000														5			36		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58491601	58491601	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:58491601G>A	uc002yaz.3	-	6	592	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SYCP2_uc010gju.1_Silent_p.F52F	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	151					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGCGAGGTACGAAACTTTCCA	0.294000														19			17		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998721	112998721	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:112998721C>T	uc001ebx.3	+	5	835	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	203						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		GGCAGGAGAGCTGAGCCTGAA	0.552000														38			28		0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	841257	841257	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:841257C>T	uc002ckf.4	+	6	1138	c.1075C>T	c.(1075-1077)Ccg>Tcg	p.P359S	RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.P331S|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	331					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGTGTTGAGCCGGCCCGGGT	0.657000														10			4		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404268	20404268	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:20404268C>T	uc001vwj.2	+	0	502	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGTCTATTTCCTGGGCGGTG	0.453000														160			34		0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39412102	39412102	+	Silent	SNP	C	T	T	rs7501803		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:39412102C>T	uc021txh.1	+	0	467	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	Homo sapiens keratin associated protein 9-9 (KRTAP9-9), mRNA.	155						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACTTGCTTCCAGCCCACCT	0.592000														16			80		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:17226675G>A	uc010hev.3	-	20	2108	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	TBC1D5_uc010heu.3_Missense_Mutation_p.S180F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S593F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S593F|TBC1D5_uc010hew.1_Missense_Mutation_p.S567F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	593						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368000														39			26		0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233410392	233410392	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:233410392G>A	uc002vsx.1	+	11	1541	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	CHRNG_uc010fye.1_Missense_Mutation_p.G455E	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	507					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCATTCCCTGGAGATCCACGC	0.612000														39			29		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445888	87445888	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:87445888C>T	uc002fjz.1	-	11	2055	c.2028G>A	c.(2026-2028)ctG>ctA	p.L676L	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.L452L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	676					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGGCTGTGTACAGAGCAGTCC	0.512000														66			56		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680330	47680330	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:47680330C>T	uc003oyz.1	+	5	709	c.709C>T	c.(709-711)Cga>Tga	p.R237*	GPR115_uc003oza.1_Nonsense_Mutation_p.R180*|GPR115_uc003ozb.1_Nonsense_Mutation_p.R180*|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	180					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R180R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TAATGTTACTCGAGAGAAAAT	0.274000														21			23		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141799479	141799479	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:141799479C>T	uc003vwy.3	+	43	5182	c.5128C>T	c.(5128-5130)Cat>Tat	p.H1710Y		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1710	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATTAATCTTCATGTCCGTGG	0.498000														36			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586714	179586714	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179586714C>T	uc021vsy.1	-	74	19169	c.18944G>A	c.(18943-18945)gGa>gAa	p.G6315E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2976E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7242	Ig-like 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATAGTTTCCTCCAGGACG	0.418000														110			81		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123725196	123725196	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:123725196C>T	uc004bkv.3	-	34	4403	c.4373G>A	c.(4372-4374)gGa>gAa	p.G1458E		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1458					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AATAACATGTCCATCTTTGAT	0.338000														90			63		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21350144	21350144	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:21350144C>T	uc002zto.3	+	16	2155	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	LZTR1_uc002ztn.3_Silent_p.I643I|LZTR1_uc011ahy.2_Silent_p.I665I	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	684	BTB 2.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACAAGGCTATCCTGGCCGCCC	0.647000														36			34		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592977	125592977	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:125592977G>A	uc010inw.3	-	3	2493	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	ANKRD50_uc011cgo.2_Silent_p.S306S	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	485										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTAGAAAGGGAATCTCTGA	0.423000														74			54		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906675	164906676	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:164906675_164906676CC>TT	uc003fej.4	-	1	2387_2388	c.1943_1944GG>AA	c.(1942-1944)ggg>gAA	p.G648E	SLITRK3_uc003fek.3_Missense_Mutation_p.G648E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G648E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	648						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCACAGGGCCCCCAGGAGGAGA	0.545000										HNSCC(40;0.11)				21			14		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189890	124189890	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:124189890G>A	uc010sah.2	-	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGAGATCAATGAAAGACAAAT	0.418000														45			38		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613436	14613436	+	Silent	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:14613436A>G	uc001rbw.3	+	8	2324	c.2166A>G	c.(2164-2166)tcA>tcG	p.S722S	ATF7IP_uc010shs.1_Missense_Mutation_p.N692D|ATF7IP_uc001rbu.3_Silent_p.S722S|ATF7IP_uc001rbv.1_Silent_p.S721S|ATF7IP_uc001rbx.3_Silent_p.S721S|ATF7IP_uc010sht.1_Missense_Mutation_p.N693D|ATF7IP_uc001rby.4_Silent_p.S722S|ATF7IP_uc001rca.3_Silent_p.S722S	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	722	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAGTATCTTCAACCAATCTTG	0.378000														65			35		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848706	29848706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:29848706G>A	uc002kxl.3	-	5	1815	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	FAM59A_uc002kxk.2_Missense_Mutation_p.P586S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	587										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CTTTCAGAAGGATTTGTGTCA	0.408000														77			4		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134804	128134804	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:128134804G>A	uc011ebt.2	-	3	1131	c.982C>T	c.(982-984)Cct>Tct	p.P328S	THEMIS_uc010kfa.3_Missense_Mutation_p.P231S|THEMIS_uc021zfa.1_Missense_Mutation_p.P328S|THEMIS_uc010kfb.3_Missense_Mutation_p.P293S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	328	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGTCTTTTAGGAAAATTGCTT	0.458000														51			47		0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119325752	119325752	+	Missense_Mutation	SNP	G	A	A	rs148143400		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:119325752G>A	uc003ecu.3	+	1	271	c.205G>A	c.(205-207)Gga>Aga	p.G69R	PLA1A_uc003ecv.3_Missense_Mutation_p.G69R|PLA1A_uc011bjc.2_Intron|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	69					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTAGTAGAAGGAAGCAGTGA	0.483000														89			69		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369799	86369799	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:86369799G>A	uc001vll.1	-	1	1304	c.845C>T	c.(844-846)tCa>tTa	p.S282L	SLITRK6_uc021rla.1_Missense_Mutation_p.S282L	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	282						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAGATGTAATGATCCTGAAGG	0.408000														65			52		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86316997	86316997	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:86316997T>C	uc002sqs.3	-	3	867	c.488A>G	c.(487-489)cAa>cGa	p.Q163R		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	163					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGTTGTGTATTGTTCTAATTC	0.438000														31			30		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242289490	242289490	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:242289490C>T	uc002wbh.3	+	15	1479	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	SEPT2_uc002wbc.3_Silent_p.L329L|SEPT2_uc002wbd.3_Silent_p.L329L|SEPT2_uc002wbf.3_Silent_p.L329L|SEPT2_uc002wbg.3_Silent_p.L329L|SEPT2_uc010zop.2_Silent_p.L364L	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	329					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GTTCACAGCTCCGCCGCATGC	0.502000														20			12		0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134343808	134343808	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:134343808C>T	uc003lag.3	+	3	740	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	218					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCTTTTTTCACCCTCTTCA	0.542000														33			32		0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958817	57958817	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:57958817G>A	uc010rka.2	+	0	912	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCCCAATGCTGAATCCCCTTA	0.522000														33			43		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9009479	9009479	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:9009479C>T	uc001apm.3	+	1	261	c.237C>T	c.(235-237)ccC>ccT	p.P79P	CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	79					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|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;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGTTCCCCATGGTCAACA	0.592000														20			21		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102057344	102057344	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:102057344C>T	uc001kqx.1	-	4	1134	c.751G>A	c.(751-753)Gat>Aat	p.D251N	PKD2L1_uc009xwm.1_Missense_Mutation_p.D204N	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	251					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCAACTCATCCTGCGAGTGG	0.567000														19			13		0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631368	241631368	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:241631368C>T	uc002vzu.3	+	0	107	c.38C>T	c.(37-39)gCc>gTc	p.A13V	AQP12A_uc002vzv.3_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	13						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TTCTTCTTTGCCACCTTCGCC	0.682000														85			20		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72967929	72967929	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:72967929C>T	uc003pga.3	+	16	2949	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	RIMS1_uc011dyb.2_Missense_Mutation_p.R583C|RIMS1_uc003pgc.3_Missense_Mutation_p.R584C|RIMS1_uc010kaq.3_Missense_Mutation_p.R431C|RIMS1_uc011dyc.2_Missense_Mutation_p.R432C|RIMS1_uc010kar.3_Missense_Mutation_p.R351C|RIMS1_uc011dyd.2_Missense_Mutation_p.R417C|RIMS1_uc003pge.3_Missense_Mutation_p.R175C|RIMS1_uc003pgf.3_Missense_Mutation_p.R174C|RIMS1_uc003pgi.3_Missense_Mutation_p.R174C|RIMS1_uc003pgg.3_Missense_Mutation_p.R175C|RIMS1_uc003pgh.3_Missense_Mutation_p.R174C|RIMS1_uc003pgd.3_Missense_Mutation_p.R175C|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.R584C|RIMS1_uc010kas.1_Missense_Mutation_p.R417C	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	958					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATCTCCTCATCGCGGCAATGA	0.448000														15			13		0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33357275	33357275	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:33357275G>A	uc001zhf.4	-	2	1375	c.1375_splice	c.e2-1	p.P459_splice	FMN1_uc001zhg.2_Splice_Site_p.P459_splice	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	682	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGTGGTCAGGCTGTTGAAAG	0.443000														52			35		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621822	7621822	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:7621822G>A	uc021pmv.1	-	8	1420	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	ITIH5_uc021pmu.1_Silent_p.I224I|ITIH5_uc001ijr.2_Silent_p.I438I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	438	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGTCGTTGCCGATGCCAATGG	0.632000														51			50		0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57095270	57095270	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:57095270C>G	uc001njt.3	-	13	1965	c.1698G>C	c.(1696-1698)aaG>aaC	p.K566N	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	566					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GATGGTCTGACTTGATCTTCT	0.522000														67			58		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117243293	117243293	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:117243293G>A	uc003pxm.3	+	12	1479	c.1416G>A	c.(1414-1416)gtG>gtA	p.V472V		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	472					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGATACTGTGGTAGAACAGA	0.368000														39			24		0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26232187	26232187	+	Silent	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:26232187A>G	uc003sxr.4	-	10	1227	c.1011T>C	c.(1009-1011)ggT>ggC	p.G337G	HNRNPA2B1_uc003sxs.4_Silent_p.G325G	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	337	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGCCTCCTGGACCATAGTTTC	0.403000			T	ETV1	prostate									87			55		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975472	21975472	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:21975472C>T	uc010iuc.2	-	2	712	c.254G>A	c.(253-255)gGa>gAa	p.G85E	CDH12_uc011cno.1_Missense_Mutation_p.G85E|CDH12_uc003jgk.2_Missense_Mutation_p.G85E	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	85	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						AGTGCCCTCTCCCTTGTCTAA	0.463000										HNSCC(59;0.17)				40			41		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60050595	60050595	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:60050595C>T	uc003jsi.4	-	8	902	c.702G>A	c.(700-702)caG>caA	p.Q234Q	ELOVL7_uc011cqo.2_Silent_p.Q147Q|ELOVL7_uc010iwk.3_Silent_p.Q234Q|ELOVL7_uc003jsj.4_Silent_p.Q221Q	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	234					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)				AGACTGGAAACTGATACTTGC	0.393000														31			22		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764029	110764029	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:110764029G>A	uc003vft.4	+	3	2247	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.E401K|LRRN3_uc003vfs.4_Missense_Mutation_p.E401K|LRRN3_uc022akc.1_Missense_Mutation_p.E401K	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	401	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGACCCACCTGAATTCCAAGG	0.443000														37			37		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110030200	110030200	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:110030200C>T	uc010rwc.2	+	3	1136	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	ZC3H12C_uc009yxw.3_Missense_Mutation_p.S378L|ZC3H12C_uc010rwd.2_Missense_Mutation_p.S379L|ZC3H12C_uc001pkr.4_Missense_Mutation_p.S347L|ZC3H12C_uc001pkq.2_Missense_Mutation_p.S347L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	378							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTAATGTATTCATTTGTCAAT	0.368000														6			9		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99338451	99338451	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:99338451C>T	uc001vno.3	-	21	2005	c.1928G>A	c.(1927-1929)aGc>aAc	p.S643N		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	643					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TACCTGTTTGCTGAACTGGCC	0.552000														6			10		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50898062	50898062	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:50898062G>A	uc003blh.3	-	26	3720	c.3525C>T	c.(3523-3525)gtC>gtT	p.V1175V	SBF1_uc011arx.2_Silent_p.V839V	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1175	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGTTGTCCTGGACACTCTGGG	0.701000														10			12		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246910	56246910	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:56246910G>A	uc002lhj.4	-	3	1312	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	366							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATGCTCACCGAATTCCATCT	0.512000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			43		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19475128	19475128	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:19475128G>A	uc002dgc.4	+	7	2016	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	TMC5_uc010vaq.2_Missense_Mutation_p.E423K|TMC5_uc002dgb.4_Missense_Mutation_p.E423K|TMC5_uc010var.2_Missense_Mutation_p.E423K|TMC5_uc002dgd.1_Missense_Mutation_p.E177K|TMC5_uc002dge.4_Missense_Mutation_p.E177K|TMC5_uc002dgf.4_Missense_Mutation_p.E106K|TMC5_uc002dgg.4_Missense_Mutation_p.E64K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	423						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCCTGTCGGAAATTCTGAA	0.478000														37			35		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199939	41199939	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:41199939G>C	uc003jmk.2	-	3	586	c.376C>G	c.(376-378)Cca>Gca	p.P126A	C6_uc003jml.1_Missense_Mutation_p.P126A	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	126	TSP type-1 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGAATGCATGGTTGAAAGGCT	0.438000														68			54		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75160976	75160976	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:75160976G>A	uc001owo.4	-	7	965	c.428C>T	c.(427-429)gCc>gTc	p.A143V	GDPD5_uc001owp.4_Missense_Mutation_p.A143V|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Missense_Mutation_p.A5V|GDPD5_uc009yud.3_Intron|GDPD5_uc009yue.1_Intron	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	143					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						CCACAGCTGGGCCACGGCCGA	0.647000														28			17		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233160982	233160982	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:233160982G>A	uc001hvl.2	-	25	4750	c.4515C>T	c.(4513-4515)atC>atT	p.I1505I	PCNXL2_uc001hvk.1_Silent_p.I157I|PCNXL2_uc001hvm.1_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1505						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCCCTCCAGGATGTACTGGG	0.577000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			49		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53038693	53038693	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:53038693C>A	uc003xqz.2	-	17	2830	c.2674G>T	c.(2674-2676)Gga>Tga	p.G892*	ST18_uc011ldq.1_Nonsense_Mutation_p.G539*|ST18_uc011ldr.1_Nonsense_Mutation_p.G857*|ST18_uc011lds.1_Nonsense_Mutation_p.G797*|ST18_uc003xra.2_Nonsense_Mutation_p.G892*	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	892						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAGGACATCCAGATAAGCTG	0.348000														62			4		0.150653	0.150653	1	1	0
DDC	1644	broad.mit.edu	37	7	50566849	50566849	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:50566849C>T	uc003tpg.4	-	7	1074	c.873G>A	c.(871-873)gtG>gtA	p.V291V	DDC_uc022ade.1_Silent_p.V213V|DDC_uc003tpf.4_Silent_p.V291V|DDC_uc022adb.1_Silent_p.V253V|DDC_uc022adc.1_Silent_p.V243V|DDC_uc022add.1_Silent_p.V198V|DDC_uc022adf.1_Silent_p.V291V	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	291					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CACCTACCTCCACTCCATTCA	0.522000														24			17		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73014888	73014888	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:73014888G>A	uc001sxa.3	+	14	2365	c.2335_splice	c.e14-1	p.E779_splice		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	779					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCCCATTTAGGAATATATTTT	0.279000														25			16		0	0	1	0	0
LOC390660	390660	broad.mit.edu	37	15	82620524	82620524	+	RNA	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:82620524G>A	uc021ssl.1	+	18		c.4004G>A			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		CAGCCTGGCTGAAGCGGGGCC	0.677000														10			6		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42832438	42832438	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:42832438A>G	uc003osn.1	+	12	2645	c.2494A>G	c.(2494-2496)Aaa>Gaa	p.K832E	KIAA0240_uc011duw.1_Missense_Mutation_p.K832E|KIAA0240_uc003osp.1_Missense_Mutation_p.K832E	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	832										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CAAACTTGATAAAGCTGCTCA	0.498000														63			44		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534816	55534816	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:55534816C>T	uc003xsd.1	+	2	903	c.755C>T	c.(754-756)cCc>cTc	p.P252L	RP1_uc011ldy.1_Missense_Mutation_p.P252L	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	252					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGTGTGTACCCCAAGGGAAAT	0.428000														39			24		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141954930	141954930	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:141954930G>A	uc003vxb.3	-	2	701	c.381C>T	c.(379-381)atC>atT	p.I127I	PRSS58_uc003vxc.4_Silent_p.I127I	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	127	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATTTTCAGAGATAGTTTGGT	0.403000														95			63		0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38862574	38862574	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:38862574C>T	uc002ywk.3	+	5	838	c.762C>T	c.(760-762)ttC>ttT	p.F254F	DYRK1A_uc002ywi.3_Silent_p.F254F|DYRK1A_uc002ywj.3_Silent_p.F245F|DYRK1A_uc002ywm.3_Silent_p.F254F|DYRK1A_uc011aei.2_Silent_p.F15F	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	254	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACACCAATTTCCGAGGGGTCT	0.428000														41			34		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104126945	104126945	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:104126945G>A	uc001tjw.3	+	50	5631	c.5445G>A	c.(5443-5445)gtG>gtA	p.V1815V	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1815	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGTTTCATGTGATACGAGATG	0.468000														12			67		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53076606	53076606	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:53076606G>A	uc003xqz.2	-	7	1496	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	ST18_uc011ldq.1_Missense_Mutation_p.S94F|ST18_uc011ldr.1_Missense_Mutation_p.S412F|ST18_uc011lds.1_Missense_Mutation_p.S352F|ST18_uc003xra.2_Missense_Mutation_p.S447F|ST18_uc003xrb.2_Missense_Mutation_p.S447F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	447						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTATCCTGGGACATTGCCAA	0.413000														36			41		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167894950	167894950	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:167894950C>T	uc003lzu.3	+	21	3349	c.3256C>T	c.(3256-3258)Cca>Tca	p.P1086S	WWC1_uc003lzv.3_Missense_Mutation_p.P1091S|WWC1_uc011den.2_Missense_Mutation_p.P1092S|WWC1_uc003lzw.3_Missense_Mutation_p.P884S|WWC1_uc010jjf.1_Missense_Mutation_p.P358S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	1086	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TAAGGAACCCCCAGAAGTTCA	0.587000														46			17		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26315366	26315366	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:26315366C>T	uc001isn.2	+	9	1218	c.858C>T	c.(856-858)ttC>ttT	p.F286F	MYO3A_uc009xko.1_Silent_p.F286F|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.F286F	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	286	Protein kinase.				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						AGCATAAATTCATTACTCAAA	0.378000														23			9		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512998	69512998	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:69512998C>T	uc021xow.1	-	5	1575	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	473					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGCTTGGCTCCTTTGTGGCGC	0.483000														81			61		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760908	92760908	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:92760908G>A	uc003umh.1	-	4	5593	c.4377C>T	c.(4375-4377)ttC>ttT	p.F1459F	SAMD9L_uc003umj.1_Silent_p.F1459F|SAMD9L_uc003umi.1_Silent_p.F1459F|SAMD9L_uc010lfb.1_Silent_p.F1459F|SAMD9L_uc003umk.1_Silent_p.F1459F|SAMD9L_uc010lfc.1_Silent_p.F1459F|SAMD9L_uc010lfd.1_Silent_p.F1459F|SAMD9L_uc022ahh.1_Silent_p.F1459F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1459										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTGTCCCCTGAAGGATCTAT	0.428000														90			86		0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23853608	23853608	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:23853608C>T	uc001uom.2	+	4	651	c.496C>T	c.(496-498)Cga>Tga	p.R166*	SGCG_uc009zzv.2_Nonsense_Mutation_p.R166*|SGCG_uc009zzw.2_Nonsense_Mutation_p.R166*	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	166					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATAAACTTCGAGTAACTGG	0.388000														18			10		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481936	140481936	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:140481936G>A	uc003lio.3	+	0	1703	c.1703G>A	c.(1702-1704)gGc>gAc	p.G568D	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	568	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			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)			CTGCAGAACGGCTCCGCGCCC	0.716000														63			40		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304153	6304153	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:6304153C>T	uc003giy.3	+	7	2797	c.2631C>T	c.(2629-2631)ttC>ttT	p.F877F	WFS1_uc003gix.3_Silent_p.F877F|WFS1_uc003giz.3_Silent_p.F695F	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	877	Poly-Phe.				ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGTGAAGTTCGCCTTCGACT	0.612000														13			19		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55076196	55076196	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:55076196C>T	uc001cxn.3	-	6	1105	c.973G>A	c.(973-975)Gga>Aga	p.G325R	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	325						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGGCTGCCTCCCGTGTAGTAC	0.562000														50			36		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701852	179701852	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179701852G>A	uc002une.2	-	22	4212	c.4094C>T	c.(4093-4095)tCc>tTc	p.S1365F	CCDC141_uc002unf.1_Missense_Mutation_p.S844F	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	790							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCATCAGAGGAAGCATGCAG	0.483000														29			23		0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092545	147092545	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:147092545C>T	uc001epq.3	+	7	3324	c.2584C>T	c.(2584-2586)Cct>Tct	p.P862S	BCL9_uc010ozr.1_Missense_Mutation_p.P788S	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	862	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGGCATTAACCCTCTGAAGTC	0.617000			T	"""IGH@, IGL@"""	B-ALL									48			46		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620143	112620143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:112620143G>A	uc002thi.3	-	9	1332	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	362					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCCTGAAAAAGAGTGCACTCC	0.413000														10			6		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132701	52132701	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:52132701G>A	uc002pxe.3	-	2	749	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	204	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGGTCCTCGGGCCTGGGGGTG	0.627000														30			24		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166929186	166929186	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:166929186G>A	uc003irh.2	+	6	1550	c.903G>A	c.(901-903)agG>agA	p.R301R	TLL1_uc021xud.1_Silent_p.R301R|TLL1_uc011cjn.2_Silent_p.R301R|TLL1_uc011cjo.2_Silent_p.R125R	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	301	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACTATGCCAGGAACACCTTCT	0.418000														39			25		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50238709	50238709	+	Silent	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:50238709A>G	uc002xwg.1	-	18	2019	c.2019T>C	c.(2017-2019)gtT>gtC	p.V673V	ATP9A_uc010gih.1_Silent_p.V537V|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	673					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAGCATCCAAACCTGAAATC	0.498000														43			25		0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56082949	56082949	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:56082949A>G	uc002ivi.3	-	3	774	c.565T>C	c.(565-567)Tac>Cac	p.Y189H	SRSF1_uc002ivj.3_3'UTR	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	Homo sapiens serine/arginine-rich splicing factor 1 (SRSF1), transcript variant 1, mRNA.	189	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCCGGATGTAGGCAGTTTCT	0.433000														5			61		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55655605	55655605	+	Missense_Mutation	SNP	G	A	A	rs146327492		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:55655605G>A	uc010rip.2	+	3	697	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TRIM51_uc010riq.2_Missense_Mutation_p.R59Q	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	202						intracellular	zinc ion binding										GAAAGGCTGCGAAAGGAGGGC	0.428000														43			24		0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672412	108672412	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:108672412C>T	uc003dxj.2	-	0	266	c.198G>A	c.(196-198)acG>acA	p.T66T	GUCA1C_uc003dxk.2_Silent_p.T66T	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	66	EF-hand 2.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTACCTTGTTCGTGTCAAAGG	0.333000														41			40		0	0	1	0	0
ZNF428	126299	broad.mit.edu	37	19	44111830	44111830	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:44111830G>A	uc002oxa.3	-	2	941	c.506C>T	c.(505-507)tCc>tTc	p.S169F	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	Homo sapiens zinc finger protein 428 (ZNF428), mRNA.	169						intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				GTTGTCGAAGGAATCCTCACA	0.652000														22			13		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319270	123319270	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:123319270G>A	uc003pzi.1	+	1	1217	c.348G>A	c.(346-348)agG>agA	p.R116R		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	116	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTATGGCAGGAAGATTCTAG	0.478000														47			27		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166868757	166868757	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:166868757C>T	uc002udo.4	-	20	3968	c.3741G>A	c.(3739-3741)acG>acA	p.T1247T	SCN1A_uc010fpk.3_Silent_p.T1219T|SCN1A_uc021vsb.1_Silent_p.T1236T	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1247						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCGTCTTAATCGTCTTTCGCT	0.294000														23			22		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89652762	89652762	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:89652762G>A	uc001dnb.3	-	8	1550	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	478						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GTGACTGCAGGAAGTTCTGGA	0.507000														42			29		0	0	1	0	0
FNDC9	408263	broad.mit.edu	37	5	156770374	156770374	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:156770374C>T	uc003lwu.2	-	1	359	c.171G>A	c.(169-171)acG>acA	p.T57T	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Silent_p.T57T	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	57	Fibronectin type-III.					integral to membrane		p.R56*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGGAGCTGATCGTTCGAGGCA	0.522000														52			32		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913594	6913594	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:6913594G>A	uc010rau.2	-	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAACAAGGGAGATTAGAAGCA	0.463000														5			30		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514862	157514862	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:157514862G>A	uc009wsm.3	-	3	476	c.318C>T	c.(316-318)atC>atT	p.I106I	FCRL5_uc001fqu.3_Silent_p.I106I|FCRL5_uc010phv.1_Silent_p.I106I|FCRL5_uc010phw.1_Silent_p.I21I|FCRL5_uc001fqv.1_Silent_p.I106I|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	106						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGCTTGCAGGATCAGCGAAG	0.373000														37			37		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593547	137593547	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:137593547G>A	uc003lcn.3	-	3	706	c.566C>T	c.(565-567)cCc>cTc	p.P189L	GFRA3_uc003lco.3_Missense_Mutation_p.P158L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	189					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)			CTGGCAGTGGGGCCCGGAGCA	0.657000														20			26		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30122210	30122210	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:30122210C>T	uc003npo.3	-	6	1058	c.982G>A	c.(982-984)Gac>Aac	p.D328N	TRIM10_uc003npn.2_Missense_Mutation_p.D328N	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	328	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CGCTGGTGGTCCTCGGACAAG	0.542000														96			23		0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507996	14507996	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:14507996C>T	uc002myl.3	+	5	966	c.586C>T	c.(586-588)Ccg>Tcg	p.P196S	CD97_uc002mym.3_Intron|CD97_uc002myn.3_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	196	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAACCGATTCCGGGGTCCCC	0.587000														71			59		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576247	33576247	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:33576247G>A	uc003jia.1	-	18	4047	c.3884C>T	c.(3883-3885)aCt>aTt	p.T1295I	ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1210I	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1295	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAAGCCCTCAGTAATCAGACT	0.473000										HNSCC(64;0.19)				110			95		0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	35002670	35002670	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:35002670G>A	uc001wsd.1	-	2	441	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	111					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTCATCCTCGGAATCAGAATC	0.338000														49			40		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573548	38573548	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:38573548C>T	uc002ohk.3	+	2	1852	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	448					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCGGGCTTCCGTGGGCTCC	0.667000														36			24		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583897	35583897	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:35583897C>T	uc003xjr.2	+	9	1859	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S	UNC5D_uc003xjs.2_Missense_Mutation_p.P506S|UNC5D_uc003xju.2_Missense_Mutation_p.P87S|UNC5D_uc003xjt.1_Missense_Mutation_p.P269S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	511					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGGACTTTTCCCCATGGAAA	0.468000														47			26		0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15747975	15747975	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:15747975G>A	uc002yjt.3	-	3	815	c.746C>T	c.(745-747)tCt>tTt	p.S249F	HSPA13_uc011abx.2_Missense_Mutation_p.S41F	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	249						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTTCTTACCAGACATTGCTCG	0.537000														43			30		0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128649886	128649886	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:128649886C>A	uc011muk.1	-	3	627	c.514G>T	c.(514-516)Gag>Tag	p.E172*	SMARCA1_uc004eun.4_Nonsense_Mutation_p.E172*|SMARCA1_uc004eup.4_Nonsense_Mutation_p.E172*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.E172*|SNORD112_uc022cdt.1_5'Flank	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	172					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.F171L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGTGACACCTCAAATCTAATA	0.343000														4			45		4.01765e-15	4.07532e-15	1	1	0
OR51D1	390038	broad.mit.edu	37	11	4661314	4661314	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:4661314C>T	uc010qyk.2	+	0	370	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGTCTTTTCCTGATGGGCA	0.542000														24			3		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117029	117029	+	RNA	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrGL000205.1:117029G>A	uc002kgk.4	+	0		c.407G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CCCTTAAAAAGACGGACAACC	0.458000														28			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583644	179583644	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179583644G>A	uc021vsy.1	-	80	20776	c.20551C>T	c.(20551-20553)Ctc>Ttc	p.L6851F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3512F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7778	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E6851K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAATGTGAGGCTCATTCCA	0.478000														10			14		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333061	70333061	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:70333061C>T	uc001oqc.3	-	20	3251	c.3139G>A	c.(3139-3141)Ggc>Agc	p.G1047S	SHANK2_uc010rqn.2_Missense_Mutation_p.G523S|SHANK2_uc001opz.3_Missense_Mutation_p.G518S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	734					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCCCCAGGCCCACATCCTCA	0.697000														22			25		0	0	1	0	0
NAPA	8775	broad.mit.edu	37	19	48018142	48018142	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:48018142C>T	uc002phd.2	-	0	374	c.56G>A	c.(55-57)cGc>cAc	p.R19H	NAPA_uc002pha.2_Missense_Mutation_p.R19H|NAPA_uc002phc.2_5'UTR|NAPA_uc010elf.2_5'UTR|NAPA_uc002phe.3_Missense_Mutation_p.R19H|NAPA_uc010elg.2_Non-coding_Transcript	NM_003827	NP_003818	P54920	SNAA_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, alpha (NAPA), transcript variant 1, mRNA.	19					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTTCACTTTGCGCTCCGCCTC	0.632000														23			15		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612531	48612531	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:48612531C>T	uc003ctz.2	-	74	6246	c.6245G>A	c.(6244-6246)gGa>gAa	p.G2082E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2082	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)		CCCAGGGGTTCCAGGGAGTCC	0.647000														33			29		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074280	9074280	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9074280G>A	uc002mkp.3	-	2	13370	c.13166C>T	c.(13165-13167)aCc>aTc	p.T4389I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4391	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						ACCTGTTTGGGTGGTGATGGT	0.468000														55			44		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52370278	52370278	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:52370278G>A	uc003joy.3	+	20	2778	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.G803S|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	879					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTGCGATGTAGGCTACCCTGC	0.443000														16			16		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74011656	74011656	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:74011656C>T	uc010wss.1	-	14	2058	c.1830G>A	c.(1828-1830)aaG>aaA	p.K610K	EVPL_uc002jqi.2_Silent_p.K588K|EVPL_uc010wst.1_Silent_p.K58K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	588	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.L610F(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTCGCACTCCTTCTGGGCTG	0.667000														0			13		0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27234245	27234245	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:27234245G>A	uc001rhq.3	-	1	711	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	224										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAGAGGGGAGGATACGCTGCC	0.557000														50			27		0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80525955	80525955	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:80525955C>T	uc002kfn.3	+	2	811	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	FOXK2_uc002kfm.1_Missense_Mutation_p.P214S|FOXK2_uc010diu.3_Missense_Mutation_p.P214S	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	214					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCCCTCCAGCCCCCGGGGAGC	0.522000														2			23		0	0	1	0	0
DFFB	1677	broad.mit.edu	37	1	3786330	3786330	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:3786330C>T	uc001alc.3	+	4	995	c.672C>T	c.(670-672)ttC>ttT	p.F224F	DFFB_uc001ale.3_Non-coding_Transcript|DFFB_uc009vlp.3_Non-coding_Transcript|DFFB_uc001alb.3_Non-coding_Transcript|DFFB_uc010nzn.2_Silent_p.F248F|DFFB_uc009vlq.3_Non-coding_Transcript|DFFB_uc009vlr.3_Silent_p.F175F|DFFB_uc001ald.3_Silent_p.F160F	NM_004402	NP_004393	O76075	DFFB_HUMAN	Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) (DFFB), mRNA.	224					DNA fragmentation involved in apoptotic nuclear change|apoptotic chromosome condensation|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AAGGCTGGTTCTCCTGCCAGG	0.662000														13			10		0	0	1	0	0
IGFL4	444882	broad.mit.edu	37	19	46543783	46543783	+	Silent	SNP	T	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:46543783T>G	uc002pdy.1	-	1	117	c.63A>C	c.(61-63)ggA>ggC	p.G21G		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	Homo sapiens IGF-like family member 4 (IGFL4), mRNA.	21						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CACCTGTGACTCCTTCTGAGT	0.527000														44			38		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351517	89351517	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:89351517G>A	uc002fmx.1	-	8	1894	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	ANKRD11_uc002fmy.1_Missense_Mutation_p.S478F|ANKRD11_uc002fnc.1_Missense_Mutation_p.S478F|ANKRD11_uc002fnb.1_Missense_Mutation_p.S435F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	478	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGACTCCGAGGAGCAGAACTT	0.547000														28			16		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362181	9362181	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9362181G>A	uc002mlb.1	+	0	462	c.462G>A	c.(460-462)atG>atA	p.M154I		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GAATCATCATGAACCCACGCC	0.443000														32			17		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981778	89981778	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:89981778G>A	uc003kju.3	+	28	6552	c.6456G>A	c.(6454-6456)gtG>gtA	p.V2152V	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2152					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	p.V2152V(2)		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)		ATGTCTCTGTGAAGTTTAAAG	0.428000														8			8		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55886935	55886935	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:55886935G>A	uc021tir.1	-	10	1364	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	CES5A_uc002eip.2_Silent_p.I377I|CES5A_uc002eio.2_Silent_p.I377I|CES5A_uc002eiq.2_Silent_p.I138I|CES5A_uc002eir.2_Silent_p.I271I	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	377						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACTGAGGCGGGATGTGCTGTA	0.458000														45			32		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	33996038	33996038	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:33996038C>T	uc003oir.4	-	8	2911	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	GRM4_uc011dsn.2_Missense_Mutation_p.E803K|GRM4_uc010jvh.3_Missense_Mutation_p.E850K|GRM4_uc010jvi.3_Missense_Mutation_p.E542K|GRM4_uc003oio.3_Missense_Mutation_p.E542K|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.E710K|GRM4_uc003oiq.3_Missense_Mutation_p.E717K|GRM4_uc011dsm.2_Missense_Mutation_p.E681K	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	850					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P849Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ACGTTCTGCTCCGGGTGGAAG	0.607000														60			40		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32351582	32351582	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:32351582C>T	uc001utt.3	+	7	782	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RXFP2_uc010aba.3_Silent_p.F237F	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	237						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CCTTGTTTTTCCTGTAAGTAT	0.323000														5			15		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473286	53473286	+	RNA	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:53473286G>A	uc002qan.4	-	3		c.1215C>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		CATTTGTAAGGTTTCTCTCCA	0.363000														37			36		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597691	179597691	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179597691C>T	uc021vsy.1	-	51	12705	c.12480G>A	c.(12478-12480)agG>agA	p.R4160R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R821R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5087							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATGCTATCCTGTATCTGT	0.483000														26			16		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128410977	128410977	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:128410977G>A	uc003qbk.3	-	7	1690	c.1323C>T	c.(1321-1323)gaC>gaT	p.D441D	PTPRK_uc010kfc.3_Silent_p.D441D|PTPRK_uc003qbj.3_Silent_p.D441D|PTPRK_uc011ebu.2_Silent_p.D441D|PTPRK_uc003qbl.1_Silent_p.D311D|PTPRK_uc011ebv.1_Silent_p.D441D	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	441	Fibronectin type-III 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTCCAAACAGTCTGCCTTGC	0.478000														70			43		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856020	12856020	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:12856020C>T	uc001auj.2	+	3	1403	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	434										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCACTTCGGGCTGAGCT	0.562000														228			31		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197366	8197366	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:8197366C>T	uc001qtu.3	+	5	1714	c.629C>T	c.(628-630)tCt>tTt	p.S210F	FOXJ2_uc001qtt.1_Missense_Mutation_p.S210F	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	210					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGCACAGGATCTGTGGATGGT	0.527000														53			57		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				92			77		1.15098e-32	1.17499e-32	1	1	0
URB2	9816	broad.mit.edu	37	1	229786999	229786999	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:229786999C>T	uc001hts.1	+	7	4303	c.4167C>T	c.(4165-4167)atC>atT	p.I1389I	URB2_uc009xfd.1_Silent_p.I1389I	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1389						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGAAAGCCATCCCTTCTTTCT	0.363000														19			15		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363347	10363347	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:10363347G>A	uc002gmn.3	-	13	1449	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	446	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGCTGGTTGATGCGGGTGA	0.483000														14			104		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660215	77660215	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:77660215G>A	uc011cbx.2	+	4	1842	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SHROOM3_uc011cbz.1_Missense_Mutation_p.E121K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E172K|SHROOM3_uc003hkg.3_Missense_Mutation_p.E75K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	297					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)			TGGCCTCCTCGAAGGGATGAG	0.557000														38			34		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620365	7620365	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:7620365C>T	uc003bqm.2	+	7	2046	c.1772C>T	c.(1771-1773)gCt>gTt	p.A591V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.A591V|GRM7_uc003bql.2_Missense_Mutation_p.A591V|GRM7_uc003bqn.1_Missense_Mutation_p.A174V|GRM7_uc010hch.1_Missense_Mutation_p.A102V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	591					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCCCCCTGGGCTGTGATTCCT	0.527000														55			46		0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16583246	16583246	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:16583246G>A	uc001ayg.3	-	4	727	c.511C>T	c.(511-513)Cct>Tct	p.P171S	FBXO42_uc001ayf.3_Missense_Mutation_p.P78S	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	171										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTGGGGGAAGGATAGGACCCT	0.522000														36			30		0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926351	128926351	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:128926351G>A	uc004euu.3	+	4	672	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	SASH3_uc011muo.1_Missense_Mutation_p.E81K	NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	164										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CTTCGGGGAGGAACCACCTGC	0.627000														8			65		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124574	106124574	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:106124574C>T	uc001kyh.3	+	3	658	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	175								p.S175S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTACGAGAATCCCTAGCTCAG	0.463000														32			26		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751612	140751612	+	Silent	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:140751612T>C	uc003ljw.2	+	0	1651	c.1651T>C	c.(1651-1653)Ttg>Ctg	p.L551L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.L551L|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	553	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCGCGTGTTGGTGGACGA	0.672000														37			19		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70819937	70819937	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:70819937C>T	uc003kbp.1	+	24	5822	c.5559C>T	c.(5557-5559)acC>acT	p.T1853T	BDP1_uc003kbo.3_Silent_p.T1853T|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1853					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGGGTAAGACCTCTAAGAAGG	0.463000														49			43		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70866590	70866590	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:70866590G>T	uc003pfc.1	+	33	2384	c.2267G>T	c.(2266-2268)gGg>gTg	p.G756V	COL19A1_uc010kam.2_Missense_Mutation_p.G652V	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	756	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGCTACCCTGGGATACCTGGG	0.373000														14			8		0.00621372	0.0062235	1	1	0
EMR2	30817	broad.mit.edu	37	19	14865891	14865891	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:14865891G>A	uc002mzp.1	-	13	1921	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Nonsense_Mutation_p.Q478*|EMR2_uc002mzq.1_Nonsense_Mutation_p.Q429*|EMR2_uc002mzr.1_Nonsense_Mutation_p.Q440*|EMR2_uc002mzs.1_Nonsense_Mutation_p.Q347*|EMR2_uc002mzt.1_Nonsense_Mutation_p.Q385*|EMR2_uc002mzu.1_Nonsense_Mutation_p.Q396*|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	489	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATCCATTCTGGCCATGCTCC	0.587000														42			33		0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190719754	190719754	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:190719754C>T	uc002urh.4	+	8	2285	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	PMS1_uc010zga.1_Missense_Mutation_p.R547C|PMS1_uc010zgb.1_Missense_Mutation_p.R525C|PMS1_uc002urk.4_Missense_Mutation_p.R547C|PMS1_uc002uri.4_Missense_Mutation_p.R586C|PMS1_uc010zgc.2_Missense_Mutation_p.R410C|PMS1_uc010zgd.2_Missense_Mutation_p.R410C|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.R547C|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.R371C|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.R254C	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	586					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCAAGATCATCGTCCTCAGTT	0.348000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						43			33		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101750	168101750	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:168101750C>T	uc002udx.3	+	8	3937	c.3848C>T	c.(3847-3849)tCt>tTt	p.S1283F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S1108F|XIRP2_uc010fpq.3_Missense_Mutation_p.S1061F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1108					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGACTTTTTCTTTAGATGAG	0.353000														61			31		0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86250533	86250533	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:86250533G>A	uc022axc.1	-	1	262	c.183C>T	c.(181-183)atC>atT	p.I61I	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Silent_p.I61I|CA1_uc022axd.1_Silent_p.I61I|CA1_uc010mae.2_Silent_p.I61I|CA1_uc003ydi.3_Silent_p.I61I	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	61					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	p.I60M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCCCACATTGATAATTTCTT	0.418000														92			86		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49148196	49148196	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:49148196G>A	uc003cwd.2	-	22	3656	c.3337C>T	c.(3337-3339)Cgt>Tgt	p.R1113C	USP19_uc003cwa.3_Missense_Mutation_p.R921C|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R1216C|USP19_uc011bcg.2_Missense_Mutation_p.R1204C|USP19_uc003cwc.2_Missense_Mutation_p.R871C|USP19_uc011bch.2_Missense_Mutation_p.R1214C	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1113					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R1201C(1)|p.R1214C(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATAAAACTACGAAAGGAGAAG	0.532000														63			54		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089701	57089701	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:57089701C>T	uc002qnl.4	+	5	2580	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CATCGTAAATCCCTTACTCTG	0.423000														46			25		0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114437848	114437848	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:114437848C>T	uc001eeb.3	-	9	2245	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.D519N|AP4B1_uc010owp.2_Missense_Mutation_p.D588N|AP4B1_uc001eed.3_Missense_Mutation_p.D687N|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_3'UTR	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	687					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CCAGTATCATCCTGAGCACTG	0.488000														27			27		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488463	84488463	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:84488463G>A	uc010chj.3	+	20	2109	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	ATP2C2_uc002fhx.3_Missense_Mutation_p.D674N|ATP2C2_uc002fhy.3_Missense_Mutation_p.D691N|ATP2C2_uc002fhz.3_Missense_Mutation_p.D523N	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	674					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CATGACTGGGGATGGGGTGAA	0.622000														38			14		0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45798111	45798111	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:45798111C>T	uc001cnm.3	-	8	947	c.731G>A	c.(730-732)cGa>cAa	p.R244Q	MUTYH_uc001cnf.3_Missense_Mutation_p.R219Q|MUTYH_uc009vxo.3_Missense_Mutation_p.R219Q|MUTYH_uc001cng.3_Missense_Mutation_p.R230Q|MUTYH_uc001cnj.3_Missense_Mutation_p.R127Q|MUTYH_uc001cni.3_Missense_Mutation_p.R219Q|MUTYH_uc001cnh.3_Missense_Mutation_p.R220Q|MUTYH_uc001cnl.3_Missense_Mutation_p.R233Q|MUTYH_uc009vxp.3_Missense_Mutation_p.R247Q|MUTYH_uc001cnn.3_Missense_Mutation_p.R234Q|MUTYH_uc001cno.3_Missense_Mutation_p.R127Q|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	244					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACCAATGGCTCGGACACGGCA	0.607000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					32			15		0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50315946	50315946	+	Splice_Site	SNP	C	T	T	rs71805922		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:50315946C>T	uc010hal.2	+	6	728	c.593_splice	c.e6-1	p.V198_splice	CRELD2_uc003biz.3_Intron|CRELD2_uc010haj.3_Intron|CRELD2_uc003bja.2_Intron|CRELD2_uc010hak.2_Intron|CRELD2_uc010ham.2_Intron	NM_001135101	NP_001128573	Q6UXH1	CREL2_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA.	197						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCAGCAGTCAGGACCGGCC	0.627000														3			11		0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474476	145474476	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:145474476C>T	uc021ouy.1	+	0	1148	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Missense_Mutation_p.S383F	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	383	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGCGCCAGTCCCAGGAGAGT	0.711000														15			9		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32083520	32083520	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:32083520G>A	uc003nzn.3	-	17	2141	c.2108C>T	c.(2107-2109)cCc>cTc	p.P703L	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.P700L	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	703					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CAGAGGTCAGGGATGATTGAG	0.622000														33			26		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961546	85961546	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:85961546G>A	uc003dql.3	+	4	532	c.532G>A	c.(532-534)Gat>Aat	p.D178N	CADM2_uc003dqj.3_Missense_Mutation_p.D176N|CADM2_uc003dqk.3_Missense_Mutation_p.D185N|CADM2_uc003dqm.2_Missense_Mutation_p.D68N|CADM2_uc021xay.1_Missense_Mutation_p.D68N|CADM2_uc021xaz.1_Missense_Mutation_p.D68N|CADM2_uc021xba.1_Missense_Mutation_p.D68N	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	176	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.E177D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AAAAGAAGAGGATGCAAATCG	0.373000														19			12		0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155226534	155226534	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:155226534G>A	uc001fjs.3	-	7	1062	c.828C>T	c.(826-828)tcC>tcT	p.S276S	FAM189B_uc001fjm.3_5'Flank|FAM189B_uc001fjn.3_5'Flank|FAM189B_uc001fjo.3_5'Flank|FAM189B_uc001fjp.3_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjt.3_Silent_p.S250S	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	276					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCATGAGCACGGATACTGCTG	0.577000														37			20		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867919	30867919	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:30867919G>A	uc001rji.1	-	14	3375	c.2624C>T	c.(2623-2625)tCc>tTc	p.S875F	CAPRIN2_uc001rjf.1_Missense_Mutation_p.S671F|CAPRIN2_uc001rjg.1_Missense_Mutation_p.S542F|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S825F|CAPRIN2_uc001rjk.4_Missense_Mutation_p.S874F|CAPRIN2_uc001rjj.1_Missense_Mutation_p.S541F|CAPRIN2_uc001rjl.4_Missense_Mutation_p.S819F|CAPRIN2_uc001rjm.1_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	875					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGACCGATAGGAATTGGTTAT	0.418000														64			45		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1255463	1255463	+	Silent	SNP	G	A	A	rs67578903		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:1255463G>A	uc003jcb.1	-	13	3154	c.3096C>T	c.(3094-3096)ttC>ttT	p.F1032F	TERT_uc003jbz.1_Silent_p.F228F|TERT_uc003jcc.1_Silent_p.F969F|TERT_uc003jca.1_Silent_p.F1020F|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Missense_Mutation_p.P95S|TERT_uc021xwb.1_Silent_p.F184F	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1032	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGACGCGCAGGAAAAATGTGG	0.567000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					25			24		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40815382	40815382	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:40815382C>T	uc003ayv.1	-	8	1267	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	MKL1_uc010gyf.1_Missense_Mutation_p.E304K|MKL1_uc003ayw.1_Missense_Mutation_p.E354K|MKL1_uc010gye.1_Missense_Mutation_p.E354K	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	354	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TGCTTCAGCTCTGCCACCTGC	0.607000			T	RBM15	acute megakaryocytic leukemia									17			11		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431960	135431960	+	Missense_Mutation	SNP	C	T	T	rs145052934		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:135431960C>T	uc004ezu.1	+	5	6386	c.6095C>T	c.(6094-6096)tCc>tTc	p.S2032F	GPR112_uc010nsb.1_Missense_Mutation_p.S1827F|GPR112_uc010nsc.1_Missense_Mutation_p.S1799F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2032					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S2032F(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTATGACTTCCTCTACAGTA	0.448000														5			67		0	0	1	0	0
RPL35A	6165	broad.mit.edu	37	3	197680974	197680974	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:197680974C>T	uc003fyr.3	+	3	338	c.265C>T	c.(265-267)Cga>Tga	p.R89*	IQCG_uc003fyp.3_Intron|RPL35A_uc003fys.3_Nonsense_Mutation_p.R89*	NM_000996	NP_000987	P18077	RL35A_HUMAN	Homo sapiens ribosomal protein L35a (RPL35A), mRNA.	89					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome|tRNA binding			lung(1)|prostate(1)|urinary_tract(1)	3	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)		TGCCAAATTCCGAAGCAATCT	0.483000														28			11		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189602	11189602	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:11189602C>T	uc003wtp.1	+	0	1108	c.987C>T	c.(985-987)agC>agT	p.S329S		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	329						integral to membrane											GGAACCTCAGCTGTGAGAGGA	0.512000														41			27		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148861626	148861626	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:148861626C>T	uc003qme.1	+	16	2618	c.2143C>T	c.(2143-2145)Cag>Tag	p.Q715*	SASH1_uc011eeb.1_Nonsense_Mutation_p.Q476*|SASH1_uc003qmf.1_Nonsense_Mutation_p.Q125*	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	715							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGTTGACAGCCAGGGCCTGAG	0.527000														4			10		0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7362692	7362692	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:7362692C>T	uc009zfu.2	+	16	2373	c.1793C>T	c.(1792-1794)gCc>gTc	p.A598V	PEX5_uc001qsw.3_Missense_Mutation_p.A598V|PEX5_uc010sgc.2_Missense_Mutation_p.A613V|PEX5_uc001qsu.3_Missense_Mutation_p.A561V|PEX5_uc010sgd.2_Missense_Mutation_p.A619V|PEX5_uc001qsv.3_Missense_Mutation_p.A590V	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	598					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GAAGGAGGTGCCATGTCGGAG	0.602000														25			29		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34543178	34543178	+	Silent	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:34543178A>G	uc001zhw.3	-	9	1578	c.1414T>C	c.(1414-1416)Tta>Cta	p.L472L	SLC12A6_uc001zhv.3_Silent_p.L421L|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.L457L|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.L413L|SLC12A6_uc001zib.3_Silent_p.L463L|SLC12A6_uc001zic.3_Silent_p.L472L|SLC12A6_uc010bau.3_Silent_p.L472L|SLC12A6_uc001zid.3_Silent_p.L413L|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Silent_p.L284L	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	472					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCATGGTTTAAGCTGCCTAAG	0.433000														40			36		0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138199917	138199917	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:138199917C>T	uc003qhr.3	+	6	1401	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	TNFAIP3_uc003qhs.3_Silent_p.P445P|TNFAIP3_uc021zfv.1_Silent_p.P73P	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	445	Interaction with NAF1 (By similarity).				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCTATGAGCCCTTGGCGTGGA	0.607000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""									34			27		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174652663	174652663	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:174652663T>C	uc001gjx.3	+	14	2105	c.1828T>C	c.(1828-1830)Tac>Cac	p.Y610H		NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	610	Rab-GAP TBC.				regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TCTCTAGGCCTACTCTGTGTA	0.403000														48			32		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33552608	33552608	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:33552608G>A	uc001iwx.4	-	3	1147	c.624C>T	c.(622-624)taC>taT	p.Y208Y	NRP1_uc001iwv.4_Silent_p.Y208Y|NRP1_uc001iwy.4_Silent_p.Y208Y|NRP1_uc009xlz.3_Silent_p.Y208Y|NRP1_uc001iww.4_Silent_p.Y27Y|NRP1_uc001iwz.2_Silent_p.Y208Y|NRP1_uc001ixa.2_Silent_p.Y208Y|NRP1_uc001ixb.2_Silent_p.Y208Y|NRP1_uc001ixc.1_Silent_p.Y208Y	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	208	CUB 2.				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)	CTAGCCGGTCGTAGCGACAGA	0.473000														34			30		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35791052	35791052	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:35791052C>T	uc002nyy.2	+	5	913	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	MAG_uc002nyx.2_Missense_Mutation_p.P239S|MAG_uc010eds.2_Missense_Mutation_p.P214S|MAG_uc002nyz.2_Missense_Mutation_p.P239S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	239					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCTTAGACCCCCCGGTGAT	0.697000														12			3		0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33402651	33402652	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:33402651_33402652GG>AA	uc010oho.2	-	8	1954_1955	c.1954_1955CC>TT	c.(1954-1956)cct>TTt	p.P652F	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Missense_Mutation_p.P651F	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	652						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGTCCCAAGGTTTGCTGGCC	0.550000														70			59		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	199556	199556	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrGL000192.1:199556G>A	uc010yii.1	-	6	1085	c.864C>T	c.(862-864)atC>atT	p.I288I	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	1986										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTGGAAAATGATTTTTTCCA	0.428000														59			18		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755446	141755446	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:141755446G>A	uc003vwy.3	+	27	3457	c.3403G>A	c.(3403-3405)Ggg>Agg	p.G1135R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1135	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTATGGCTTTGGGGAAACTGA	0.537000														54			42		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105143	168105143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:168105143G>A	uc002udx.3	+	8	7330	c.7241G>A	c.(7240-7242)gGa>gAa	p.G2414E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G2239E|XIRP2_uc010fpq.3_Missense_Mutation_p.G2192E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2239					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCATAACAGGAAAAACCGGT	0.438000														53			41		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11291001	11291001	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:11291001G>A	uc001asd.3	-	17	2881	c.2760C>T	c.(2758-2760)tcC>tcT	p.S920S		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	920					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GACTTGACTTGGATTCTGACA	0.493000														80			51		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32266186	32266186	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:32266186C>T	uc001bts.1	-	3	1516	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G	SPOCD1_uc001btu.3_Silent_p.G486G|SPOCD1_uc001btv.3_5'UTR|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	486					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCTGATGGCCCCCAGGAGCT	0.667000														5			8		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97791667	97791667	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:97791667C>T	uc010qop.2	+	11	1340	c.1108C>T	c.(1108-1110)Ccc>Tcc	p.P370S	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Non-coding_Transcript|CC2D2B_uc001kll.3_Missense_Mutation_p.P291S	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	291										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGCTGAATTTCCCCAGACAGA	0.388000														67			60		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463367	44463367	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:44463367G>A	uc001cll.3	-	13	2163	c.1971C>T	c.(1969-1971)gcC>gcT	p.A657A	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Silent_p.A603A|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.A588A|SLC6A9_uc010oko.2_Silent_p.A473A|SLC6A9_uc001cln.3_Silent_p.A584A	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	657						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCTCCAGGAGGGCAGGGCCCC	0.647000														94			73		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72397152	72397152	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:72397152G>A	uc001osu.3	-	33	4459	c.4270C>T	c.(4270-4272)Ccc>Tcc	p.P1424S	ARAP1_uc001osv.3_Missense_Mutation_p.P1413S|ARAP1_uc001osr.3_Missense_Mutation_p.P1184S|ARAP1_uc001oss.3_Missense_Mutation_p.P1179S|ARAP1_uc009yth.3_Missense_Mutation_p.P1107S|ARAP1_uc010rre.2_Missense_Mutation_p.P1168S	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1424					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCTCGAAGGGGGATCAGTGAC	0.642000														27			26		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503683	40503683	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:40503683C>T	uc002lav.3	-	3	453	c.280G>A	c.(280-282)Ggc>Agc	p.G94S	RIT2_uc010dnf.3_Missense_Mutation_p.G94S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	94					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGATGAAGCCTTCCCCACCT	0.433000														150			126		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363534	10363534	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:10363534G>A	uc002gmn.3	-	12	1363	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	418	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCACAGTCTGGCCTTTGGTT	0.413000														11			53		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885334	39885334	+	Silent	SNP	C	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:39885334C>A	uc001zkh.3	+	17	3080	c.2901C>A	c.(2899-2901)ccC>ccA	p.P967P	THBS1_uc010bbi.3_Silent_p.P439P	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	967	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGGACCCCAAAGGGACAT	0.502000														29			35		8.4185e-14	8.49868e-14	1	1	0
ARID1B	57492	broad.mit.edu	37	6	157517341	157517341	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:157517341C>T	uc003qqp.3	+	14	3866	c.3866C>T	c.(3865-3867)cCc>cTc	p.P1289L	ARID1B_uc003qqo.3_Missense_Mutation_p.P1302L|ARID1B_uc003qqn.3_Missense_Mutation_p.P1342L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1289					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.Q1289*(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGACAGATGCCCAACAGCAGC	0.493000														17			56		0	0	1	0	0
CSDC2	27254	broad.mit.edu	37	22	41969756	41969756	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:41969756G>A	uc003bak.1	+	2	571	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN	Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA.	92	CSD.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding			prostate(2)|upper_aerodigestive_tract(1)	3						GAACGGGTCCGAGGACATCTT	0.607000														45			37		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110835351	110835351	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:110835351G>A	uc001vqw.4	-	27	2206	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	695	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTTGGGGCCGGGGGGCCCTGG	0.612000														0			10		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49232749	49232750	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:49232749_49232750GG>AA	uc002pki.3	-	4	1474_1475	c.1277_1278CC>TT	c.(1276-1278)acc>aTT	p.T426I		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	426					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGTTGAGGAAGGTGTCCACATA	0.693000														5			3		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40069005	40069005	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:40069005C>T	uc003ayc.3	+	27	4701	c.4701C>T	c.(4699-4701)acC>acT	p.T1567T	CACNA1I_uc003ayd.3_Silent_p.T1532T|CACNA1I_uc003aye.3_Silent_p.T1482T|CACNA1I_uc003ayf.3_Silent_p.T1447T	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1567					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.A1567>?(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGGCATCACCCTGGAGGAGA	0.607000														32			21		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579104	35579104	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:35579104T>A	uc001bym.3	+	9	1819	c.1673T>A	c.(1672-1674)aTt>aAt	p.I558N	ZMYM1_uc001byn.3_Missense_Mutation_p.I558N|ZMYM1_uc010ohu.2_Missense_Mutation_p.I539N|ZMYM1_uc001byo.3_Missense_Mutation_p.I198N|ZMYM1_uc009vut.3_Missense_Mutation_p.I483N	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	558						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGCTTATAATTGAAAATATT	0.318000														62			24		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034811	16034811	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:16034811C>T	uc002nbu.2	-	6	765	c.729G>A	c.(727-729)acG>acA	p.T243T	CYP4F11_uc010eab.1_Silent_p.T243T|CYP4F11_uc002nbt.2_Silent_p.T243T	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	243					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						ACAGGAAGTCCGTGTGCAAGA	0.542000														58			50		0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650469	55650469	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:55650469C>T	uc004duo.3	+	0	637	c.325C>T	c.(325-327)Cct>Tct	p.P109S		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	109					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S108F(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAACATTTCTCCTTTCCCTCA	0.532000														3			20		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105349419	105349419	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:105349419C>G	uc001yps.3	+	6	721	c.415C>G	c.(415-417)Cgc>Ggc	p.R139G	KIAA0284_uc010axb.3_Missense_Mutation_p.R139G	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	209						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCACGGCTTCCGCGCCCCTGC	0.687000														8			5		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100221563	100221563	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:100221563G>A	uc001pga.3	+	23	3665	c.3161G>A	c.(3160-3162)gGa>gAa	p.G1054E	CNTN5_uc021qpb.1_Missense_Mutation_p.G1054E|CNTN5_uc021qpc.1_Missense_Mutation_p.G980E|CNTN5_uc010ruk.2_Missense_Mutation_p.G325E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1054	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAGGAGATGGAACAGCTAGT	0.383000														35			28		0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154295826	154295826	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:154295826C>T	uc001feu.3	+	3	520	c.480C>T	c.(478-480)ttC>ttT	p.F160F	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	160					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAATGGCTTCCTGGATCAGG	0.552000														76			49		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399788	124399788	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:124399788C>T	uc001lgk.1	+	51	6894	c.6788C>T	c.(6787-6789)tCa>tTa	p.S2263L	DMBT1_uc001lgl.1_Missense_Mutation_p.S2253L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1635L|DMBT1_uc021qaf.1_Missense_Mutation_p.S2263L|DMBT1_uc021qag.1_Missense_Mutation_p.S2253L|DMBT1_uc021qah.1_Missense_Mutation_p.S1635L|DMBT1_uc009xzz.1_Missense_Mutation_p.S2262L|DMBT1_uc010qtx.1_Missense_Mutation_p.S983L|DMBT1_uc009yab.1_Missense_Mutation_p.S966L|DMBT1_uc009yac.1_Missense_Mutation_p.S557L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2263	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TATACTTCCTCATCTTTCTTG	0.458000														58			62		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723251	72723251	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:72723251G>A	uc004ahm.2	+	2	890	c.273G>A	c.(271-273)tcG>tcA	p.S91S	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	91	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCACATCTTCGGAGTCTCTGT	0.502000														31			21		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266829	107266830	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:107266829_107266830GG>AA	uc011lvm.2	+	0	286_287	c.286_287GG>AA	c.(286-288)ggg>AAg	p.G96K		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCATTCTCAGGGTGCGCCACT	0.530000														5			11		0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38291485	38291485	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:38291485C>T	uc003chy.3	+	14	1693	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	OXSR1_uc010hhb.3_Nonsense_Mutation_p.R385*	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	451					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAATGATATTCGATTTGAATT	0.308000														21			11		0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170033160	170033160	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:170033160G>A	uc003qwx.3	-	20	2626	c.2106C>T	c.(2104-2106)atC>atT	p.I702I	WDR27_uc003qwv.2_Non-coding_Transcript|WDR27_uc021zio.1_Silent_p.I702I|WDR27_uc003qwy.3_Silent_p.I575I	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	672										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGCGAGTACGATGTCTGCGA	0.522000														9			5		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666682	19666682	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:19666682G>A	uc002ykw.3	-	20	2422	c.2391C>T	c.(2389-2391)ccC>ccT	p.P797P		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	797	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCACAACCCAGGGCCAGGCCC	0.527000														79			57		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783091	164783091	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:164783091C>T	uc003fei.3	-	6	828	c.765G>A	c.(763-765)tgG>tgA	p.W255*		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	255	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCCATGTTTTCCAGGATAAAT	0.338000										HNSCC(35;0.089)				43			27		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304276	10304276	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:10304276C>T	uc002gmm.2	-	26	3350	c.3255_splice	c.e26-1	p.K1085_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1085					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAAATTCTTTCCTTTAGACAG	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					7			26		0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137284658	137284658	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:137284658G>A	uc003lbz.2	-	16	2614	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	FAM13B_uc003lcb.2_Missense_Mutation_p.P598S|FAM13B_uc003lca.2_Missense_Mutation_p.P694S	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	694					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ATATCTTCTGGAAGACACCTC	0.358000														57			40		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223400943	223400943	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:223400943G>A	uc001hnx.3	-	5	1688	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	SUSD4_uc001hny.4_Missense_Mutation_p.P352S|SUSD4_uc010puw.2_Missense_Mutation_p.P192S	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	352						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GACCTGGGGGGAAAGTGGGCC	0.547000														17			13		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14517794	14517794	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:14517794G>A	uc003ssz.3	-	19	2017	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	DGKB_uc011jxt.2_Silent_p.F591F|DGKB_uc003sta.3_Silent_p.F610F|DGKB_uc011jxu.2_Silent_p.F609F	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	610					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACCTACTGTTGAATTTCTCTG	0.343000														4			6		0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74058272	74058272	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:74058272G>A	uc001ovb.1	-	6	1156	c.860C>T	c.(859-861)cCa>cTa	p.P287L		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	287					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTCTGGTACTGGAATTGGAGG	0.378000														27			24		0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11789463	11789463	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:11789463A>G	uc001ikw.4	+	1	506	c.286A>G	c.(286-288)Atc>Gtc	p.I96V	ECHDC3_uc009xix.3_5'UTR	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 3 (ECHDC3), nuclear gene encoding mitochondrial protein, mRNA.	96						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						AGTCATTATCATCTCGGGTAT	0.438000														75			57		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752615	76752615	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:76752615G>A	uc002lmt.3	+	1	624	c.624G>A	c.(622-624)caG>caA	p.Q208Q	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCTGGAACAGCTCATGGCCC	0.721000														4			4		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70966482	70966482	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:70966482G>A	uc003pfg.4	-	20	1651	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	COL9A1_uc003pfe.4_Missense_Mutation_p.P71S|COL9A1_uc003pff.4_Missense_Mutation_p.P255S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	498	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGTGCACCAGGAAGACCCTGA	0.403000														23			8		0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32843887	32843887	+	Silent	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:32843887T>C	uc002nte.3	+	2	423	c.151T>C	c.(151-153)Tta>Cta	p.L51L	ZNF507_uc002ntc.2_Silent_p.L51L|ZNF507_uc010xrn.1_Silent_p.L51L|ZNF507_uc002ntd.3_Silent_p.L51L	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TATCCAGAAGTTAAGCAAGAT	0.373000														39			36		0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111439345	111439345	+	Missense_Mutation	SNP	G	A	A	rs150734121	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:111439345G>A	uc001dzw.3	+	6	665	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	CD53_uc001dzx.3_Missense_Mutation_p.R165Q|CD53_uc010owa.2_Intron	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	165					signal transduction	integral to membrane|plasma membrane		p.R165Q(2)|p.R165*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCCTCAGATCGAAAAGTGGAG	0.443000														51			30		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128028	117128028	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:117128028T>A	uc003pxj.1	-	2	862	c.840A>T	c.(838-840)caA>caT	p.Q280H	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.Q280H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	280					response to amino acid stimulus		G-protein coupled receptor activity	p.Q280*(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAACATGGAATTGCCTCAGAA	0.353000														57			43		0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249595	71249595	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:71249595C>T	uc001oqr.1	+	0	525	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	165	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGCTGCCAGTCCAGCTGCTGC	0.597000														131			92		0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224665	77224665	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:77224665C>T	uc004ecy.1	-	0	471	c.471G>A	c.(469-471)aaG>aaA	p.K157K	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.	157					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CAATAGTATCCTTCGGACTCT	0.517000														8			75		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19651322	19651322	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:19651322C>T	uc002ykw.3	-	22	2754	c.2723G>A	c.(2722-2724)aGa>aAa	p.R908K		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	908	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGAACAATTTCTTCCTGGAGG	0.323000														13			8		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685704	248685704	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:248685704G>A	uc001ien.1	+	0	757	c.757G>A	c.(757-759)Ggg>Agg	p.G253R		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATTTTCTATGGGACCATCAT	0.438000														68			44		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538926	63538926	+	Splice_Site	SNP	A	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:63538926A>T	uc011kdm.2	+	4	1679	c.1500_splice	c.e4+1	p.*500_splice		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AACATAAGGTAATTCATACTG	0.378000														9			7		0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139739896	139739896	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:139739896G>A	uc003lfm.2	+	0	110	c.75G>A	c.(73-75)ctG>ctA	p.L25L	SLC4A9_uc003lfj.2_Silent_p.L25L|SLC4A9_uc011czg.1_Silent_p.L25L|SLC4A9_uc003lfl.2_Silent_p.L25L|SLC4A9_uc003lfk.2_Silent_p.L25L	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	25						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGGAGCTGGACAGCAACC	0.562000														10			12		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45289408	45289408	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:45289408G>A	uc003bfn.3	-	6	1040	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	PHF21B_uc011aqk.2_Nonsense_Mutation_p.Q243*|PHF21B_uc003bfm.3_Nonsense_Mutation_p.Q93*|PHF21B_uc011aql.2_Nonsense_Mutation_p.Q255*|PHF21B_uc011aqm.1_Nonsense_Mutation_p.Q243*	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	297							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)		CGCTTGCTCTGGATTTCTGGA	0.622000														2			2		0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17309905	17309905	+	RNA	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:17309905T>C	uc010gqr.1	+	1		c.1061T>C								Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA.																		TCTCCCTCCTTTGGGGCTGAT	0.448000														2			11		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117963012	117963012	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:117963012G>A	uc001two.2	-	13	1832	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	622					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTCATCATGGACCTCTTCA	0.602000														7			10		0	0	1	0	0
MRI1	84245	broad.mit.edu	37	19	13876864	13876864	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:13876864C>T	uc002mxe.3	+	2	534	c.468C>T	c.(466-468)gcC>gcT	p.A156A	MRI1_uc002mxf.3_Intron	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	156					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						AGCGGGTGGCCCCCAGCGGTG	0.632000														29			12		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94069764	94069764	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:94069764C>T	uc001ybv.1	+	23	3306	c.3223_splice	c.e23+1	p.P1075_splice	UNC79_uc001ybs.1_Splice_Site_p.R1075_splice	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1252						integral to membrane		p.P1252S(1)|p.R1075*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCAAAATTCGTTGAGTATC	0.473000														3			29		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78774080	78774080	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:78774080G>A	uc004akc.2	+	11	2150	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	PCSK5_uc004ajy.2_Missense_Mutation_p.A538T|PCSK5_uc004ajz.3_Missense_Mutation_p.A538T|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	538	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAGCTTTTGGCCAACAGGTA	0.567000														32			14		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24583226	24583226	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:24583226G>A	uc002dmh.3	+	17	5879	c.4839G>A	c.(4837-4839)aaG>aaA	p.K1613K	RBBP6_uc002dmi.3_Silent_p.K1579K|RBBP6_uc010bxr.3_Silent_p.K773K|RBBP6_uc002dmk.3_Silent_p.K1446K	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1613					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)		GTACTGTCAAGCCTAAACCCC	0.388000														48			37		0	0	1	0	0
ARGLU1	55082	broad.mit.edu	37	13	107211953	107211953	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:107211953C>G	uc001vqk.4	-	1	647	c.400G>C	c.(400-402)Gta>Cta	p.V134L	ARGLU1_uc010age.1_5'UTR	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	Homo sapiens arginine and glutamate rich 1 (ARGLU1), mRNA.	134	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AATTCTTCTACTCTTCGTGCT	0.393000														33			50		0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012015	151012015	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:151012015G>A	uc003eyt.2	-	2	1380	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	340						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTTTGCAGTGATCTGATGCT	0.353000														89			75		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115754795	115754795	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:115754795A>G	uc003ibu.3	-	11	3042	c.2363T>C	c.(2362-2364)gTt>gCt	p.V788A	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	788	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACGAGGTGTAACTCCCAGAAA	0.388000														31			25		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793882	38793882	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:38793882C>T	uc003ciq.3	-	10	1583	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	528					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)	TTCGTGGTCTCCAGGAAAGAC	0.607000														44			24		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70891709	70891709	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:70891709G>A	uc002ezr.3	-	71	12342	c.12191C>T	c.(12190-12192)cCc>cTc	p.P4064L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4065										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTGTGCTCGGGAATTAGGAA	0.463000														14			17		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91308570	91308570	+	Missense_Mutation	SNP	C	T	T	rs146077918	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:91308570C>T	uc002bpr.3	+	8	2216	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S	BLM_uc010uqh.2_Missense_Mutation_p.P707S|BLM_uc010uqi.2_Missense_Mutation_p.P332S|BLM_uc010bnx.3_Missense_Mutation_p.P707S	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	707	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGTGTTTCTCCTGGGGTCAC	0.393000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					48			29		0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5923268	5923268	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:5923268T>C	uc003zjq.4	-	7	2944	c.2728A>G	c.(2728-2730)Agc>Ggc	p.S910G	KIAA2026_uc010mht.3_Missense_Mutation_p.S85G	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	910										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACAGCTTGCTTCTAGCCATA	0.328000														3			28		0	0	1	0	0
PGF	5228	broad.mit.edu	37	14	75416246	75416246	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:75416246G>A	uc010ase.2	-	2	651	c.129C>T	c.(127-129)ttC>ttT	p.F43F	PGF_uc001xqz.3_Silent_p.F43F|PGF_uc001xrb.3_Silent_p.F43F|PGF_uc010asf.2_Missense_Mutation_p.S29F	NM_001207012	NP_001193941	P49763	PLGF_HUMAN	Homo sapiens placental growth factor (PGF), transcript variant 2, mRNA.	43					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		ACACTTCCTGGAAGGGTACCA	0.652000														1			8		0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67531570	67531570	+	Silent	SNP	T	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:67531570T>G	uc010dqo.3	-	5	1438	c.991A>C	c.(991-993)Aga>Cga	p.R331R	CD226_uc002lkm.4_Silent_p.R331R|CD226_uc021uli.1_Silent_p.R176R	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	331					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GTCTTTGGTCTGCGAGAGAAG	0.373000														46			33		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3821400	3821400	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:3821400C>T	uc002lyw.2	-	9	1581	c.1569G>A	c.(1567-1569)agG>agA	p.R523R	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	523						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCCGCTGCTTCCTCATGCGCT	0.682000														15			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077007	9077007	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9077007C>T	uc002mkp.3	-	2	10643	c.10439G>A	c.(10438-10440)gGa>gAa	p.G3480E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3481	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						GCTTGTTTTTCCTCCTGAGGG	0.488000														40			15		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995636	11995636	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:11995636C>T	uc003wvc.1	-	0	634	c.634G>A	c.(634-636)Ggg>Agg	p.G212R	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	212					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCTGAAATCCCGTGGCAGTGG	0.512000														19			8		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159724	154159724	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:154159724G>A	uc004fmt.3	-	13	2512	c.2341C>T	c.(2341-2343)Cca>Tca	p.P781S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	781	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATTTTCTGGAATTGTGGTG	0.408000														8			80		0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949433	116949433	+	Silent	SNP	T	C	C	rs143732959	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:116949433T>C	uc003pxe.2	+	2	1708	c.1563T>C	c.(1561-1563)aaT>aaC	p.N521N	RSPH4A_uc010kee.2_Silent_p.N521N	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	521	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.R520Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGGGCGAAATAGCTTTGAGG	0.458000									Kartagener syndrome					61			47		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197298087	197298087	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:197298087A>T	uc002utm.1	-	1	244	c.61T>A	c.(61-63)Tac>Aac	p.Y21N		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	21					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCAATGTGTACCGCATCTGG	0.597000														36			29		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108813861	108813861	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:108813861C>T	uc003dxl.3	-	6	565	c.478G>A	c.(478-480)Gat>Aat	p.D160N	MORC1_uc011bhn.2_Missense_Mutation_p.D160N	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	160					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.D159Y(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCTGGGGATCATCTGTGACA	0.313000														19			13		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506957	74506957	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:74506957T>C	uc001dfy.4	-	6	1850	c.1658A>G	c.(1657-1659)aAg>aGg	p.K553R	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	553										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAGTTTTTGCTTAACAATCAG	0.313000														36			27		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707467	37707467	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:37707467C>T	uc004aag.1	+	2	200	c.156C>T	c.(154-156)atC>atT	p.I52I	FRMPD1_uc004aah.1_Silent_p.I52I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	52						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGACCCTCATCCCTGTGCGAC	0.498000														7			41		0	0	1	0	0
TMEM213	155006	broad.mit.edu	37	7	138487772	138487772	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:138487772G>A	uc010lna.3	+	2	393	c.282G>A	c.(280-282)ctG>ctA	p.L94L	TMEM213_uc010lnb.3_Silent_p.L93L	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	Homo sapiens transmembrane protein 213 (TMEM213), mRNA.	94						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						TGGACAAACTGATGAAGCTGA	0.582000														17			11		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408016	50408016	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:50408016G>A	uc002xwh.4	-	1	1107	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	SALL4_uc010gii.3_Missense_Mutation_p.P336S|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	336					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P336S(2)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGGCCTGAGGAAGCAAAGCG	0.647000														23			19		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608898	33608898	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:33608898C>T	uc002nug.1	+	15	2678	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	GPATCH1_uc002nuh.1_Silent_p.F165F	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	788						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGGCCAACTTCCAAAGCTCCC	0.507000														38			32		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117221504	117221504	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:117221504C>T	uc001lcg.3	+	21	3762	c.3376C>T	c.(3376-3378)Cgc>Tgc	p.R1126C	ATRNL1_uc010qsm.2_Missense_Mutation_p.R255C|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1126						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGAAGATGATCGCCACCATAC	0.313000														27			21		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154561920	154561921	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:154561920_154561921CC>TT	uc001ffh.3	-	8	2928_2929	c.2686_2687GG>AA	c.(2686-2688)gga>AAa	p.G896K	ADAR_uc021pag.1_Missense_Mutation_p.G601K|ADAR_uc001ffj.3_Missense_Mutation_p.G851K|ADAR_uc001ffi.3_Missense_Mutation_p.G870K|ADAR_uc001ffk.3_Missense_Mutation_p.G601K	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	896	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGAGAATCTCCTTTCACACAG	0.450000														33			23		0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7687732	7687732	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:7687732C>T	uc002mgx.3	-	9	1313	c.1287G>A	c.(1285-1287)gtG>gtA	p.V429V		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	429					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCAGGTCATCCACCTGCTTGA	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)						16			11		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347571	74347571	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:74347571C>T	uc003hhb.3	+	0	110	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	27	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACACAACCTCGGGATATAGG	0.294000														20			15		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109689873	109689873	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:109689873T>C	uc001tob.3	+	41	5932	c.5813T>C	c.(5812-5814)aTt>aCt	p.I1938T	ACACB_uc001toc.3_Missense_Mutation_p.I1938T|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.I604T	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1938	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCATTGGGATTGGGGCCTAC	0.587000														1			10		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15853149	15853149	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:15853149C>T	uc010xoq.2	+	0	947	c.947C>T	c.(946-948)tCc>tTc	p.S316F		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCTCTAAGCTCCTAATGGCCA	0.408000														45			36		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872554	213872554	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:213872554C>T	uc002vem.3	-	7	1280	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	IKZF2_uc010fuu.3_Missense_Mutation_p.E226K|IKZF2_uc002vej.3_Missense_Mutation_p.E318K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E297K|IKZF2_uc002vel.3_Missense_Mutation_p.E292K|IKZF2_uc010fuw.3_Missense_Mutation_p.E145K|IKZF2_uc010fux.3_Missense_Mutation_p.E145K|IKZF2_uc010fuy.3_Missense_Mutation_p.E299K|IKZF2_uc002ven.3_Missense_Mutation_p.E345K|IKZF2_uc002vei.3_Missense_Mutation_p.E149K	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCAGCAGTTTCCCTGCTAATG	0.498000														42			42		0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149907734	149907734	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:149907734C>T	uc003lsk.4	+	2	1384	c.882C>T	c.(880-882)ttC>ttT	p.F294F	NDST1_uc011dcj.2_Silent_p.F294F|NDST1_uc003lsl.3_Silent_p.F294F	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	294	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTGTCTTCGTGGATGCCG	0.607000														57			50		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102515815	102515815	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:102515815G>T	uc001yks.2	+	74	13575	c.13411G>T	c.(13411-13413)Gcc>Tcc	p.A4471S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4471					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.A4471A(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACGGTGCCTGCCGGCATGAC	0.607000														6			28		3.73988e-18	3.79963e-18	1	1	0
FERMT1	55612	broad.mit.edu	37	20	6068451	6068451	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:6068451C>T	uc002wmr.3	-	10	2133	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	FERMT1_uc002wmq.3_Missense_Mutation_p.M1I|FERMT1_uc010gbt.3_Missense_Mutation_p.M191I|FERMT1_uc002wms.3_Missense_Mutation_p.M448I	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	448	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACATTTCATTCATACCATCGG	0.393000														58			44		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371965	76371965	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:76371965G>A	uc001oxq.4	-	2	915	c.672C>T	c.(670-672)gaC>gaT	p.D224D	LRRC32_uc001oxr.4_Silent_p.D224D|LRRC32_uc010rsf.2_Silent_p.D224D	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	224						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGCAGCTCAGGTCTAGCACCC	0.617000														38			29		0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172935784	172935784	+	Silent	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:172935784T>C	uc002uhk.3	+	5	763	c.690T>C	c.(688-690)atT>atC	p.I230I	METAP1D_uc010zdw.2_Silent_p.I112I	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	230					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TCTCTGTAATTGGAAACACAA	0.443000														27			26		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166234156	166234156	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:166234156G>A	uc002udc.3	+	22	4594	c.4304G>A	c.(4303-4305)cGa>cAa	p.R1435Q	SCN2A_uc002udd.3_Missense_Mutation_p.R1435Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1435Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1435					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTTGATTCACGAAATGTAAGT	0.269000														32			31		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607124	84607125	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:84607124_84607125CC>TT	uc004amn.3	+	3	1786_1787	c.1739_1740CC>TT	c.(1738-1740)tcc>tTT	p.S580F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	580						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CAGGTGAAGTCCCTGGCTCAAC	0.545000														54			46		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98376456	98376456	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:98376456G>A	uc001kmq.3	-	12	2082	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	PIK3AP1_uc001kmo.3_Missense_Mutation_p.R251W|PIK3AP1_uc001kmp.3_Missense_Mutation_p.R474W|5S_rRNA_uc021pwo.1_5'Flank	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	652						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCTCTTAGCCGTTTAAGATTT	0.413000														67			44		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13383560	13383560	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:13383560G>A	uc003bxv.1	-	21	3111	c.3028C>T	c.(3028-3030)Ctt>Ttt	p.L1010F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1010					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TATTTGGCAAGGAAGGGCTTC	0.562000														33			25		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675047	40675047	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:40675047C>T	uc001zll.3	+	0	126	c.11C>T	c.(10-12)cCc>cTc	p.P4L	C15orf23_uc001zlo.3_Missense_Mutation_p.P4L|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.P4L	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	4						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		ATGGCGGCTCCCGAAGCCCCG	0.582000														14			9		0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40041513	40041513	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:40041513C>A	uc003thh.4	+	4	2518	c.2236C>A	c.(2236-2238)Cca>Aca	p.P746T	CDK13_uc003thi.4_Missense_Mutation_p.P746T|CDK13_uc011kbf.2_Missense_Mutation_p.P132T	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	746	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GGAAGGCTTTCCAATTACAGC	0.338000														49			27		1.1804e-14	1.19353e-14	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136700663	136700663	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:136700663G>A	uc003vtf.1	+	3	1674	c.1051G>A	c.(1051-1053)Ggt>Agt	p.G351S	CHRM2_uc003vtg.1_Missense_Mutation_p.G351S|CHRM2_uc003vti.1_Missense_Mutation_p.G351S|CHRM2_uc003vtm.1_Missense_Mutation_p.G351S|CHRM2_uc003vtj.1_Missense_Mutation_p.G351S|CHRM2_uc003vtk.1_Missense_Mutation_p.G351S|CHRM2_uc003vtl.1_Missense_Mutation_p.G351S|CHRM2_uc003vtn.1_Missense_Mutation_p.G351S|CHRM2_uc003vto.1_Missense_Mutation_p.G351S|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G351S	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	351					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGGGTCTTCAGGTCAGAATGG	0.463000														66			33		0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44223293	44223293	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:44223293G>A	uc003oxd.3	-	3	585	c.449C>T	c.(448-450)aCg>aTg	p.T150M	SLC35B2_uc011dvt.2_Missense_Mutation_p.T53M|SLC35B2_uc011dvu.2_Missense_Mutation_p.T17M|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	150					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCGAGTCCGTAAAGCGCTC	0.592000														96			4		0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1625578	1625578	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:1625578G>A	uc002ltr.3	-	6	565	c.496C>T	c.(496-498)Cta>Tta	p.L166L	TCF3_uc002ltt.4_Silent_p.L166L|TCF3_uc002ltq.3_Silent_p.L115L|TCF3_uc002lts.1_Silent_p.L82L	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	166					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CGCTCACCTAGGCTGCCGTCT	0.692000			T	"""PBX1, HLF, TFPT"""	pre B-ALL									5			3		0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472436	23472436	+	Silent	SNP	C	T	T	rs150145986		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:23472436C>T	uc002wth.1	+	1	489	c.132C>T	c.(130-132)aaC>aaT	p.N44N		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	44						extracellular region	cysteine-type endopeptidase inhibitor activity	p.A43A(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAAATGCCAACGTGAAGCAGT	0.507000														70			52		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884924	63884924	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:63884924G>A	uc021qks.1	+	0	1185	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.T395T	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	367					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCAAGACCACGGCCAGCAACC	0.642000														25			22		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42679998	42679998	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:42679998G>A	uc010ggo.3	+	3	504	c.464G>A	c.(463-465)gGg>gAg	p.G155E	TOX2_uc002xle.4_Missense_Mutation_p.G113E|TOX2_uc010ggp.3_Missense_Mutation_p.G113E|TOX2_uc002xlf.4_Missense_Mutation_p.G164E|TOX2_uc010zwk.2_Missense_Mutation_p.G33E	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCGGCCCGGGCCCCTGCTG	0.642000														25			24		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412058	130412058	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:130412058C>T	uc004ewe.4	-	12	2390	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	IGSF1_uc004ewd.3_Missense_Mutation_p.E698K|IGSF1_uc022cdv.1_Missense_Mutation_p.E689K|IGSF1_uc004ewf.2_Missense_Mutation_p.E678K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	698	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTTGTAGTTCCTGGCCCCGG	0.527000														8			39		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74672778	74672778	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:74672778A>T	uc002lmi.3	+	29	5578	c.5380A>T	c.(5380-5382)Aag>Tag	p.K1794*	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1794					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGCAACATGAAGCTGCACAT	0.602000														5			40		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086197	92086197	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:92086197G>A	uc001pdj.4	+	0	936	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	307	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGGCTGGGGATCCTTTAGA	0.448000										TCGA Ovarian(4;0.039)				30			28		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142920098	142920098	+	Silent	SNP	G	A	A	rs76255203	by1000genomes	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:142920098G>A	uc011ksx.2	+	0	927	c.927G>A	c.(925-927)cgG>cgA	p.R309R		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	309					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCTGGAAGCGGTTTCAGCACC	0.537000														41			27		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547211	35547211	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:35547211C>T	uc003zww.3	+	1	948	c.693C>T	c.(691-693)ctC>ctT	p.L231L	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.L231L	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	231						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AATGGAAGCTCAGTTCAGATG	0.592000														7			36		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560740	1560740	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:1560740C>T	uc001agg.3	+	6	1186	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	MIB2_uc001agh.3_Silent_p.L367L|MIB2_uc001agi.3_Silent_p.L381L|MIB2_uc001agj.3_Silent_p.L165L|MIB2_uc001agk.3_Silent_p.L316L|MIB2_uc001agl.2_Silent_p.L280L|MIB2_uc001agm.3_Silent_p.L201L|MIB2_uc010nyq.2_Silent_p.L280L|MIB2_uc009vkh.3_Silent_p.L165L|MIB2_uc001agn.3_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	324					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTCAAGTGTCTGCTGGACAC	0.692000														5			4		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77216280	77216280	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:77216280C>T	uc001syk.1	+	7	1029	c.866C>T	c.(865-867)cCg>cTg	p.P289L	ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Non-coding_Transcript	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	289					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TATGACAATCCGTCCTTCCTT	0.393000														13			11		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563908	58563908	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:58563908G>A	uc002qrc.1	+	4	763	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	172					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CACTCCCCGAGGAAAGTGAGT	0.647000														27			15		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43271917	43271917	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:43271917C>T	uc021yzt.1	+	9	1626	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	SLC22A7_uc003ous.3_Silent_p.A507A|SLC22A7_uc003out.3_Silent_p.A507A	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	509						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.A509T(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCGGCACCGCCCTCCTGCTGC	0.627000														41			40		0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74183275	74183275	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:74183275C>T	uc010kav.3	+	3	847	c.723C>T	c.(721-723)ccC>ccT	p.P241P	MTO1_uc003pgy.4_Silent_p.P241P|MTO1_uc003pgz.4_Silent_p.P241P|MTO1_uc003pha.4_Intron|MTO1_uc003phb.4_Silent_p.P167P	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.	241					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						GGACTCCACCCCGAATTGCCA	0.448000														40			31		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458129	248458129	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:248458129C>T	uc010pzj.2	-	0	752	c.752G>A	c.(751-753)gGa>gAa	p.G251E		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AATGCCAGCTCCATAAAAGAG	0.488000														57			48		0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145542017	145542017	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:145542017G>A	uc003zbv.3	-	6	851	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	195					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCGCCAGCAGGGAGCCCACT	0.677000														15			9		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139429169	139429169	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:139429169G>A	uc002tvi.3	-	1	118	c.118C>T	c.(118-120)Cca>Tca	p.P40S		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	40	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AACGTCCCTGGAGCATCTTTG	0.517000														45			44		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259408	32259408	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:32259408G>A	uc001bts.1	-	11	2532	c.2474C>T	c.(2473-2475)cCt>cTt	p.P825L	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Missense_Mutation_p.P825L|SPOCD1_uc001btv.3_Missense_Mutation_p.P318L|SPOCD1_uc021oks.1_Missense_Mutation_p.P130L	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	825					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCAGGCATAGGAGTTTGGCT	0.577000														103			65		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30932964	30932964	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:30932964G>A	uc009yjk.1	-	15	2070	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.T326T	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	298					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CAAGGTGAAAGGTCCTTGGGA	0.453000														1			2		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	462334	462334	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:462334C>T	uc003jba.3	+	8	1693	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	533					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGTGTGTCTCCGAGCCAGCCC	0.542000														51			35		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6427486	6427486	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:6427486C>T	uc001qnr.3	+	10	1323	c.1175C>T	c.(1174-1176)aCc>aTc	p.T392I	PLEKHG6_uc001qns.3_Missense_Mutation_p.T392I|PLEKHG6_uc010sew.2_Missense_Mutation_p.T392I|PLEKHG6_uc010sex.2_Missense_Mutation_p.T360I	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	392					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCATTCTCCACCCTGGACCTG	0.657000														38			20		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054478	64054478	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:64054478C>T	uc010rni.2	+	3	601	c.573C>T	c.(571-573)agC>agT	p.S191S	BAD_uc001nzd.3_5'Flank|BAD_uc001nzc.3_5'Flank|BAD_uc009ypk.2_5'Flank|GPR137_uc010rnj.2_Silent_p.S133S|GPR137_uc001nze.2_Silent_p.S133S|GPR137_uc001nzf.3_Silent_p.S133S|GPR137_uc001nzh.2_Silent_p.S133S|GPR137_uc001nzi.3_Silent_p.S133S|GPR137_uc021qkt.1_Silent_p.S133S	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	133						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGGAGATGAGCCGAGGCTTGT	0.622000														18			12		0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52390927	52390927	+	RNA	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:52390927C>T	uc001jjf.1	+	1		c.1620C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		ACGTTGAACTCGGAGGCCGGG	0.587000														7			3		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345158	20345158	+	Silent	SNP	C	T	T	rs141738617		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:20345158C>T	uc001vwh.1	+	0	732	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F244F(6)|p.H243R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGCTCATTTCATTGTTGTCT	0.378000														186			64		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206981	58206981	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:58206981G>A	uc010rkh.2	-	0	666	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAATAAGTAGGAGATCAAGAT	0.413000														28			31		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023645	76023645	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:76023645C>T	uc010kbe.3	-	5	2442	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	FILIP1_uc003phy.1_Missense_Mutation_p.E635K|FILIP1_uc003phz.3_Missense_Mutation_p.E536K|FILIP1_uc003pia.3_Missense_Mutation_p.E635K|FILIP1_uc003pib.1_Missense_Mutation_p.E387K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	635										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCTCAATTTCAAGTGTTAGT	0.413000														130			122		0	0	1	0	0
COTL1	23406	broad.mit.edu	37	16	84600451	84600451	+	Nonstop_Mutation	SNP	T	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:84600451T>G	uc002fid.3	-	3	578	c.429A>C	c.(427-429)taA>taC	p.*143Y		NM_021149	NP_066972	Q14019	COTL1_HUMAN	Homo sapiens coactosin-like 1 (Dictyostelium) (COTL1), mRNA.	0						cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622000														24			9		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7745459	7745459	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:7745459T>A	uc001ijs.3	+	0	224	c.62T>A	c.(61-63)aTc>aAc	p.I21N		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	21					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.E20K(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGCTTCGAAATCCCCATAAAT	0.408000														45			30		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35630184	35630184	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:35630184G>A	uc021rid.1	+	6	1544	c.1010G>A	c.(1009-1011)tGg>tAg	p.W337*	NBEA_uc021ric.1_Nonsense_Mutation_p.W337*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	337						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACAATCGATGGAGGAACAGT	0.308000														25			22		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269703	28269703	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:28269703G>A	uc003nky.3	+	6	2492	c.2072G>A	c.(2071-2073)gGg>gAg	p.G691E	PGBD1_uc003nkz.3_Missense_Mutation_p.G691E	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	691					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CGTTGGTATGGGGATGGCATT	0.388000														100			122		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32915400	32915400	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:32915400C>T	uc003cff.3	+	1	1006	c.943C>T	c.(943-945)Cag>Tag	p.Q315*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	315					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATCTACCTCCAGGAGGCACT	0.612000														117			90		0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388024	41388024	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:41388024C>T	uc002opm.3	-	0	634	c.92G>A	c.(91-93)gGg>gAg	p.G31E	CYP2A7_uc002opo.3_Intron|CYP2A7_uc002opn.3_Missense_Mutation_p.G31E	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	31						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGCAGCTTCCCCCTGCTCTT	0.582000														25			29		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:248112339C>T	uc001idt.1	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413000														209			153		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508588	24508588	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:24508588C>T	uc001iru.4	+	1	507	c.104C>T	c.(103-105)cCa>cTa	p.P35L	KIAA1217_uc001irs.3_5'UTR|KIAA1217_uc001irt.4_Missense_Mutation_p.P35L|KIAA1217_uc010qcy.2_Missense_Mutation_p.P35L|KIAA1217_uc010qcz.2_Missense_Mutation_p.P35L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	35					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTAACATCACCAGAAGATGCA	0.433000														23			16		0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36031707	36031707	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:36031707C>T	uc002xgx.3	+	13	1985	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	SRC_uc002xgy.3_Silent_p.F512F|SRC_uc021wdd.1_Non-coding_Transcript	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	512	Protein kinase.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GGCCCACCTTCGAGTACCTGC	0.682000														2			5		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166999063	166999063	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:166999063G>A	uc003irh.2	+	17	2970	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	TLL1_uc011cjn.2_Missense_Mutation_p.E798K|TLL1_uc011cjo.2_Missense_Mutation_p.E599K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	775	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGCTGAGTGTGAACAGAAGAT	0.512000														25			13		0	0	1	0	0
PPT2	9374	broad.mit.edu	37	6	32125486	32125486	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:32125486C>T	uc003nzw.3	+	5	807	c.632C>T	c.(631-633)cCc>cTc	p.P211L	PPT2_uc003nzx.3_Missense_Mutation_p.P205L|PPT2_uc003nzz.3_Missense_Mutation_p.P205L|PPT2_uc021yvl.1_Missense_Mutation_p.P82L|EGFL8_uc003nzy.2_Non-coding_Transcript|PPT2_uc010jtu.1_Missense_Mutation_p.P205L	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	205					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						AGAGACCATCCCAATGCCACA	0.517000														30			15		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10940894	10940894	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:10940894C>T	uc002mpt.2	+	19	2573	c.2383C>T	c.(2383-2385)Cct>Tct	p.P795S	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.P795S|DNM2_uc010dxl.2_Missense_Mutation_p.P795S|DNM2_uc002mpu.2_Missense_Mutation_p.P791S|DNM2_uc002mpv.2_Missense_Mutation_p.P791S|DNM2_uc002mpw.3_Missense_Mutation_p.P524S|DNM2_uc002mpx.1_Missense_Mutation_p.P151S	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	795	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCCCTGATTCCTGTTCCCGT	0.701000			"""F, N, Splice, Mis, O"""		ETP ALL									51			41		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120801997	120801997	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:120801997G>A	uc001ldu.3	-	18	3181	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_uc010qsu.2_Missense_Mutation_p.A978V|EIF3A_uc009xzg.1_Missense_Mutation_p.A51V	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1012	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCATCATCCGCATGACGCCA	0.572000														217			18		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076754	87076754	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:87076754C>T	uc011lfy.2	-	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	98	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCTTCCCTCTCTCTGGTTTCC	0.502000														45			43		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46860045	46860045	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:46860045G>A	uc003bhw.1	-	1	3742	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1248					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGTCGTTCTGGACGTTGAAG	0.652000														34			42		0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324699	3324699	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:3324699G>A	uc010vrd.2	+	0	838	c.838G>A	c.(838-840)Gat>Aat	p.D280N		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TTCAGACAAGGATAAGGGGGT	0.512000														18			61		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26775274	26775274	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:26775274G>A	uc001rhg.3	-	24	3604	c.3187C>T	c.(3187-3189)Cat>Tat	p.H1063Y		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1063					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATGATCAGATGAATGAGGACC	0.438000														49			3		0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4683502	4683502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:4683502G>A	uc002mba.3	-	18	2576	c.2318C>T	c.(2317-2319)cCc>cTc	p.P773L	LOC100131094_uc021ung.1_Intron	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	744					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GAACACCTGGGGCTTGTGGAT	0.667000														27			23		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370225	126370225	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	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														89			63		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390349	158390349	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:158390349G>A	uc010pii.2	-	0	308	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAAGAGGAAGGAAAACATTTG	0.483000														139			5		0	0	1	0	0
UNKL	64718	broad.mit.edu	37	16	1453328	1453328	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:1453328C>T	uc010brn.2	-	2	318	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	UNKL_uc002clq.3_Missense_Mutation_p.R102Q	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN	Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.	102						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CCCCGTCGTCCGGTGCAGGTA	0.607000														16			17		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25367199	25367199	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:25367199G>A	uc001upr.3	+	9	996	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	RNF17_uc010tdd.1_Missense_Mutation_p.E178K|RNF17_uc010tde.2_Missense_Mutation_p.E319K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E258K|RNF17_uc001upq.1_Missense_Mutation_p.E319K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	319					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.E319V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCAAGAAAATGAAATTAGACA	0.328000														51			33		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43206999	43206999	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:43206999C>T	uc002lbe.3	+	3	1224	c.408C>T	c.(406-408)ctC>ctT	p.L136L	SLC14A2_uc002lbb.3_Silent_p.L136L|SLC14A2_uc010dnj.3_Silent_p.L136L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	136						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAATCCTCTCAGCGGCCTCA	0.557000														66			63		0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86354657	86354657	+	Silent	SNP	A	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:86354657A>C	uc004amy.3	-	12	1552	c.1056T>G	c.(1054-1056)ggT>ggG	p.G352G	GKAP1_uc004amz.3_Silent_p.G301G	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	352					signal transduction	Golgi apparatus		p.G352G(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CTTTTCTGCCACCCTGTAAAA	0.343000														14			5		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90245106	90245106	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:90245106C>T	uc002boj.3	+	1	230	c.129C>T	c.(127-129)ctC>ctT	p.L43L	WDR93_uc002bok.4_Silent_p.L43L|WDR93_uc010bnr.3_Silent_p.L43L	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	43					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATCATGTCCTCGTGGATCCAG	0.483000														38			38		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7721945	7721945	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:7721945G>A	uc010rbf.2	-	6	799	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.									p.R267P(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTCCAGCCTCGACCACAGCCC	0.517000														2			9		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840604	142840604	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:142840604C>T	uc003evm.3	+	1	1885	c.946C>T	c.(946-948)Cca>Tca	p.P316S	CHST2_uc021xex.1_Missense_Mutation_p.P316S	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	316					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GGTCTTGGCGCCACTGCTGCG	0.667000														9			11		0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48821391	48821391	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:48821391C>T	uc001crr.2	-	10	1341	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	SPATA6_uc001crs.2_Splice_Site_p.R382_splice|SPATA6_uc010omv.2_Missense_Mutation_p.R368Q	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	382					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.R382W(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTTTTTACCCGGTCATGGAT	0.294000														49			12		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6820787	6820787	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:6820787C>T	uc002mfu.1	+	1	376	c.279C>T	c.(277-279)ctC>ctT	p.L93L	VAV1_uc010xjh.1_Silent_p.L93L|VAV1_uc010dva.1_Silent_p.L93L|VAV1_uc002mfv.1_Silent_p.L38L	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	93	CH.|Leu-rich.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAGCGAGCTCTTCGAAGCCT	0.483000														71			47		0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127901503	127901503	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:127901503C>T	uc003qbh.3	+	2	494	c.482C>T	c.(481-483)cCa>cTa	p.P161L		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	161						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTTTTGCCCCCACCCAAGAAT	0.423000														49			35		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174868996	174868996	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:174868996C>T	uc003mcz.3	-	1	2052	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A	DRD1_uc021yia.1_Silent_p.A369A	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	369					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TGGAAAACATCGCGGCCCCAT	0.498000														56			48		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062354	194062354	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:194062354G>A	uc003fts.3	-	1	1168	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	CPN2_uc021xix.1_Silent_p.L360L	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	360					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)		AGCTTGGACAGGTTCTGGAAG	0.582000														37			32		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806870	97806870	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:97806870C>T	uc011bgs.2	+	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I284F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTATAATTCCCCTGCTAAAC	0.373000														31			16		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46744675	46744675	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:46744675C>T	uc002eei.4	-	10	2257	c.2141G>A	c.(2140-2142)gGg>gAg	p.G714E	MYLK3_uc010vge.2_Missense_Mutation_p.G373E	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	714	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATCTGTTTCCCCTAGAAATGG	0.468000														85			72		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325238	57325238	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:57325238C>T	uc002qnu.2	-	6	4923	c.4572G>A	c.(4570-4572)ctG>ctA	p.L1524L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.L1495L|PEG3_uc002qnv.2_Silent_p.L1524L|PEG3_uc002qnw.2_Silent_p.L1400L|PEG3_uc002qnx.2_Silent_p.L1398L|PEG3_uc010etr.2_Silent_p.L1524L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1524					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATGAGTTTTCAGGTGTTCAC	0.478000														80			51		0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288587	144288587	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:144288587G>A	uc003weq.3	-	6	533	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	TPK1_uc003weo.3_Intron|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Intron|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	144					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TGAGTCGCTTGGAACAAGGTA	0.448000														45			45		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42821111	42821111	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:42821111C>T	uc010goq.3	+	11	1667	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	MX1_uc002yzh.3_Missense_Mutation_p.R441C|MX1_uc002yzi.3_Missense_Mutation_p.R441C	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	441					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AAATCAGTATCGTGGTAGAGA	0.373000														36			31		0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38262970	38262970	+	Missense_Mutation	SNP	C	A	A	rs72558420		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:38262970C>A	uc004def.4	+	5	854	c.640C>A	c.(640-642)Cac>Aac	p.H214N		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	214			H -> Y (in OTCD; neonatal).		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)	ATTCGGAATGCACCTTCAGGC	0.463000														0			32		7.11191e-15	7.2025e-15	1	1	0
U2AF1L4	199746	broad.mit.edu	37	19	36233529	36233529	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:36233529G>A	uc002obg.3	-	7	960	c.651C>T	c.(649-651)atC>atT	p.I217I	IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_Intron|U2AF1L4_uc002obe.3_3'UTR|U2AF1L4_uc002obf.3_Silent_p.I193I|U2AF1L4_uc002obh.1_3'UTR|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA.	0					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTGGGAAGGATGGGGCAGG	0.572000														44			38		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23155595	23155596	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:23155595_23155596GT>AA	uc003xdh.1	-	13	2624_2625	c.2285_2286AC>TT	c.(2284-2286)cac>cTT	p.H762L	LOXL2_uc010lty.1_Missense_Mutation_p.T264F	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	762					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCCGCTGAAGTGCTCAAACTT	0.540000														14			9		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769984	37769984	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:37769984C>T	uc003asq.4	-	2	2377	c.1591G>A	c.(1591-1593)Gct>Act	p.A531T	ELFN2_uc021wph.1_Missense_Mutation_p.A531T	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	531						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					ATCTCTGCAGCCGAGCCCTGG	0.607000														61			46		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85407407	85407407	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:85407407C>T	uc010rth.2	-	16	2867	c.2478G>A	c.(2476-2478)agG>agA	p.R826R	SYTL2_uc010rtg.2_Silent_p.R827R|SYTL2_uc010rti.2_Silent_p.R802R|SYTL2_uc010rtj.2_Silent_p.R794R|SYTL2_uc001pav.3_Silent_p.R268R|SYTL2_uc010rte.2_Silent_p.R228R|SYTL2_uc001pax.3_Silent_p.R268R|SYTL2_uc001paz.3_Silent_p.R147R|SYTL2_uc001pay.3_Silent_p.R257R|SYTL2_uc001paw.3_Silent_p.R228R|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Silent_p.R1124R|SYTL2_uc001pbb.3_Silent_p.R1164R|SYTL2_uc001pbc.3_Silent_p.R1148R|SYTL2_uc010rtf.2_Silent_p.R644R	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	826	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.R827R(1)|p.R1164R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGCGACTTTTCCTACTTGTAT	0.418000														56			48		0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189433	29189433	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:29189433G>A	uc001brf.1	+	2	999	c.757G>A	c.(757-759)Gac>Aac	p.D253N		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	253					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CAAGGAGAAGGACCGCAGCCT	0.642000														18			12		0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19260221	19260221	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:19260221C>T	uc002nlp.2	-	4	799	c.72G>A	c.(70-72)cgG>cgA	p.R24R	MEF2B_uc002nll.2_Silent_p.R24R|MEF2B_uc010xqo.1_Silent_p.R24R|MEF2B_uc010xqp.1_Silent_p.R24R|MEF2B_uc002nlo.2_Silent_p.R24R|MEF2B_uc002nlk.2_Silent_p.R24R	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GCCCGAACTTCCGCTTGGTGA	0.562000														67			4		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168720	50168720	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:50168720C>T	uc001zxu.3	-	25	2924	c.2782_splice	c.e25-1	p.D928_splice	ATP8B4_uc010ber.3_Splice_Site_p.D801_splice|ATP8B4_uc010ufd.2_Splice_Site_p.D738_splice|ATP8B4_uc010ufe.2_Splice_Site|ATP8B4_uc001zxt.3_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	928					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCACTCACATCCTGTAAACAG	0.413000														22			26		0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1821173	1821173	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:1821173G>A	uc003gdv.3	-	10	1932	c.1635C>T	c.(1633-1635)atC>atT	p.I545I		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	545					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGAGGATGTCGATTTCCTCCT	0.532000														45			38		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397659	111397659	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:111397659G>A	uc003iab.4	+	0	431	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	30					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GTGGGTGTAGGATTAATAGTG	0.562000														82			62		0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86354322	86354322	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:86354322C>T	uc003ydj.3	+	2	336	c.253C>T	c.(253-255)Cct>Tct	p.P85S	CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	85					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGGTCCTCTCCCTGGACCCTA	0.507000														39			28		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41754497	41754497	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:41754497G>A	uc010ehj.3	+	12	1806	c.1616G>A	c.(1615-1617)gGg>gAg	p.G539E	AXL_uc010ehk.3_Missense_Mutation_p.G530E	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	539	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTGGCCCTGGGGAAGACTCTG	0.562000														31			27		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43147866	43147866	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:43147866G>A	uc003xpz.1	+	0	282	c.239G>A	c.(238-240)aGa>aAa	p.R80K	POTEA_uc003xqa.1_Missense_Mutation_p.R80K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	80										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTCCCCAGAGCGGATCTC	0.612000														49			31		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39502952	39502952	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:39502952T>A	uc003xni.3	+	10	1060	c.1005T>A	c.(1003-1005)tgT>tgA	p.C335*	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Nonsense_Mutation_p.C311*	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	335	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCACTCAGTGTTTCTGTCTGA	0.333000														28			20		0	0	1	0	0
TTC9C	283237	broad.mit.edu	37	11	62503008	62503008	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:62503008C>T	uc001nux.3	+	2	1044	c.792C>T	c.(790-792)ctC>ctT	p.L264L	TTC9C_uc001nuy.3_Silent_p.L131L	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	Homo sapiens tetratricopeptide repeat domain 9C (TTC9C), mRNA.	131							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GCCACTACCTCCTGGCTGCCG	0.522000														17			14		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:58125899G>A	uc010rke.2	-	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(2)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAGATAGGAAATCAAGGT	0.373000														36			20		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34640695	34640695	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:34640695A>G	uc002yrl.1	+	0	463	c.52A>G	c.(52-54)Ata>Gta	p.I18V	IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron|LOC100288432_uc002yrj.2_5'Flank|IFNAR2_uc002yrk.1_Intron	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TCTTATTTTCATAGCATTGGG	0.408000														25			13		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068387	89068387	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:89068387G>A	uc001xww.3	+	10	1699	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	ZC3H14_uc010twd.2_Missense_Mutation_p.D492N|ZC3H14_uc010twe.2_Missense_Mutation_p.D492N|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Missense_Mutation_p.D37N|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	492						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GAAGACTGCAGATTCCCTTCG	0.428000														5			45		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900949	123900949	+	Missense_Mutation	SNP	C	T	T	rs150048996		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:123900949C>T	uc001pzp.1	+	0	620	c.620C>T	c.(619-621)tCg>tTg	p.S207L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATAGTGGCCTCGGGCTGCTTT	0.532000														77			55		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103301837	103301837	+	Splice_Site	SNP	G	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:103301837G>T	uc001vpi.4	+	23	3055	c.2952_splice	c.e23+1	p.A984_splice		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	984					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGAAAGCTGTAAGTATTAG	0.308000														25			16		6.49762e-13	6.54911e-13	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118865454	118865454	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:118865454G>A	uc003ecb.1	+	0	458	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.E140K	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	140										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCTGACGGAGGAAAGAACTGC	0.478000														41			21		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669557	158669557	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:158669557T>C	uc001fsu.1	-	0	886	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TTTATTTCTTTATTCCTCAGG	0.388000														38			29		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138290150	138290150	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:138290150C>T	uc003esl.3	-	3	316	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	CEP70_uc011bmk.2_Missense_Mutation_p.G20S|CEP70_uc011bml.2_Missense_Mutation_p.G22S|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.G40S|CEP70_uc003esn.3_Missense_Mutation_p.G40S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	40					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GGTTTTAAGCCATGCATCATC	0.313000														24			13		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76399923	76399923	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:76399923C>T	uc002jvm.3	+	6	1167	c.1155C>T	c.(1153-1155)acC>acT	p.T385T	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Silent_p.T98T|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_Silent_p.T98T	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	385					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCTACCTCACCACTGGCTATT	0.552000														9			42		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722538	14722538	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:14722538C>T	uc003zlj.3	-	0	178	c.133G>A	c.(133-135)Ggc>Agc	p.G45S		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	45					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TCATGGTTGCCTGTGGGAAGC	0.572000														8			43		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160459	160459	+	RNA	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrGL000192.1:160459C>T	uc010yih.1	-	11		c.1963G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTTCCTTTCGATTGTCTCC	0.428000														93			6		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17393732	17393732	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:17393732C>T	uc010xpn.1	+	3	657	c.543C>T	c.(541-543)gtC>gtT	p.V181V	BABAM1_uc010ean.2_Non-coding_Transcript|ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.V127V|ANKLE1_uc010eao.1_Silent_p.V149V|ANKLE1_uc002nfy.2_Silent_p.V116V|ANKLE1_uc002nfz.2_5'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	127						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCGCGCGAGTCCTGCAGGATC	0.716000											OREG0025341	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			4		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27456005	27456005	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:27456005G>A	uc002dor.2	+	6	1264	c.716G>A	c.(715-717)tGg>tAg	p.W239*	IL21R_uc002doq.2_Nonsense_Mutation_p.W217*|IL21R_uc002dos.2_Nonsense_Mutation_p.W217*	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	217					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGGAGTGAATGGAGTGACCCG	0.592000			T	BCL6	NHL									36			28		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178559900	178559900	+	Splice_Site	SNP	T	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:178559900T>G	uc003mjw.3	-	14	2188	c.2086_splice	c.e14-1	p.K696_splice		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	696	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACAGCCCACCTTCTGTTGGGG	0.582000														18			10		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117694	117694	+	RNA	SNP	T	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrGL000205.1:117694T>G	uc002kgk.4	+	0		c.1072T>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGAGGTGGCCTCAGTAAAGGC	0.602000														27			4		0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161642806	161642806	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:161642806G>A	uc001gaz.2	+	3	560	c.433G>A	c.(433-435)Gga>Aga	p.G145R	FCGR2B_uc009wum.2_Missense_Mutation_p.G145R|FCGR2B_uc001gay.2_Missense_Mutation_p.G144R|FCGR2B_uc001gba.2_Missense_Mutation_p.G144R|FCGR2B_uc009wun.2_Missense_Mutation_p.G138R|FCGR2B_uc001gbb.2_Missense_Mutation_p.G145R	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	145	Ig-like C2-type 2.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTCCAGGAGGGAGAAACCAT	0.542000			T	?	ALL									38			15		0	0	1	0	0
EPM2A	7957	broad.mit.edu	37	6	146007362	146007362	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:146007362G>A	uc003qkw.3	-	1	729	c.372C>T	c.(370-372)ctC>ctT	p.L124L	EPM2A_uc003qkv.3_Silent_p.L124L|EPM2A_uc010khr.3_Silent_p.L124L|EPM2A_uc003qkx.3_5'UTR	NM_005670	NP_005661	O95278	EPM2A_HUMAN	Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.	124	CBM20.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		GTCCTATTGGGAGACAATACA	0.418000														4			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013371	107013371	+	RNA	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:107013371G>A	uc021ser.1	-	218		c.8505C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.483000														74			55		0	0	1	0	0
ETF1	2107	broad.mit.edu	37	5	137849282	137849282	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:137849282G>A	uc003ldc.4	-	4	681	c.516C>T	c.(514-516)ttC>ttT	p.F172F	ETF1_uc011cyv.2_Silent_p.F158F|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Silent_p.F139F|ETF1_uc010jey.1_5'UTR	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	172					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATCCACAGTGAATTTGTGCA	0.433000														78			56		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157000165	157000165	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:157000165C>T	uc010lqs.3	+	11	1804	c.1492C>T	c.(1492-1494)Cca>Tca	p.P498S	UBE3C_uc003wng.2_Missense_Mutation_p.P498S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	498					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCGAATCATCCCACTCTTTTA	0.358000														41			26		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94505629	94505629	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:94505629C>T	uc001dqh.3	-	23	3681	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1193					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTTAGGTCATCGACGTGGGCT	0.562000											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			9		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732122	152732122	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:152732122G>A	uc001fal.1	+	1	116	c.58G>A	c.(58-60)Ggt>Agt	p.G20S	KPRP_uc021ozf.1_Missense_Mutation_p.G20S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	20	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCGTCAAGGGTCCCTCCTT	0.582000														54			32		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525151	112525151	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:112525151C>T	uc001ebu.1	-	1	678	c.198G>A	c.(196-198)ctG>ctA	p.L66L	KCND3_uc001ebv.1_Silent_p.L66L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	66						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCGTGCTGCCCAGCAGGGTGT	0.597000														39			39		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61493003	61493003	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:61493003C>T	uc002jal.4	+	22	3906	c.3883C>T	c.(3883-3885)Ctc>Ttc	p.L1295F	TANC2_uc010wpe.2_Missense_Mutation_p.L1205F|TANC2_uc002jao.4_Missense_Mutation_p.L406F	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1295							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTCTCTCCTCCTCAACCTCTC	0.522000														7			30		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166378	180166378	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:180166378C>T	uc003mmf.1	-	0	681	c.681G>A	c.(679-681)gtG>gtA	p.V227V		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGTTGACTTCACCCTCAGCA	0.507000														103			71		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719515	162719515	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:162719515C>T	uc002ubx.4	+	5	893	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	SLC4A10_uc010fpa.1_Missense_Mutation_p.R249C|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R248C|SLC4A10_uc002uby.4_Missense_Mutation_p.R237C	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	237					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R237R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCCATTGTTCGTTCCTTTGC	0.383000														26			13		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976878	41976878	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:41976878G>A	uc001cgz.4	-	8	7678	c.6465C>T	c.(6463-6465)tcC>tcT	p.S2155S	HIVEP3_uc001cha.4_Silent_p.S2154S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2155					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGAAGGGTCGGGAGGAGAGAG	0.602000														24			19		0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179203	34179203	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:34179203C>T	uc001rlm.3	+	2	1094	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	259					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCCCTACATCCTTCTGGGATT	0.373000														173			119		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108489172	108489172	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:108489172G>A	uc010ywk.2	+	19	4794	c.4712G>A	c.(4711-4713)gGa>gAa	p.G1571E	RGPD4_uc002tdu.3_Missense_Mutation_p.G758E|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1571					intracellular transport		binding	p.G1571A(2)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTTTGTTTGGATTTAGTTTT	0.348000														158			150		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223722	35223722	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:35223722C>T	uc001bxu.3	+	1	891	c.791C>T	c.(790-792)cCc>cTc	p.P264L	GJB5_uc021okz.1_Missense_Mutation_p.P264L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	264					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCAGACCGCCCCCGAGACCAT	0.572000														31			30		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128370	30128370	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:30128370G>A	uc003npo.3	-	0	342	c.266C>T	c.(265-267)tCc>tTc	p.S89F	TRIM10_uc003npn.2_Missense_Mutation_p.S89F|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	89						cytoplasm	zinc ion binding			ovary(1)	1						ACCCAGTGTGGACACCAGCTG	0.572000														79			220		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544660	115544660	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:115544660C>T	uc003ibs.2	+	1	1146	c.624C>T	c.(622-624)agC>agT	p.S208S	UGT8_uc003ibt.2_Silent_p.S208S|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	208					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TAGGGGTCAGCTTTCTGGTTC	0.458000														59			36		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51189601	51189601	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:51189601C>T	uc002psx.1	-	19	2489	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	SHANK1_uc002psw.1_Missense_Mutation_p.E208K	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	824					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCAGGATTTCGTCCAGTTTG	0.567000														31			31		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57189301	57189301	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:57189301C>T	uc001cym.4	-	16	2340	c.1934G>A	c.(1933-1935)aGa>aAa	p.R645K	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	645								p.R645K(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTTTTCATTCTGTTCTTTTC	0.308000														11			8		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171138	214171138	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:214171138C>T	uc001hkh.3	+	1	1532	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	PROX1_uc001hkg.1_Silent_p.P420P	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	420					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTCCGAACCCCCTGGACACCT	0.567000														86			57		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39315967	39315967	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:39315967G>A	uc003jlv.4	-	5	869	c.780C>T	c.(778-780)tcC>tcT	p.S260S		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	260	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAGAAATTGAGGAGGCTGTTT	0.328000														36			20		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13092489	13092489	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:13092489C>T	uc010xac.2	+	33	6297	c.6217C>T	c.(6217-6219)Ctt>Ttt	p.L2073F	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1598F|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L495F|CEP192_uc002krx.3_Missense_Mutation_p.L77F|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1668										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGAGAATTCCTTCAGCCTTC	0.363000														44			4		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768768	57768768	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:57768768G>A	uc002yan.3	+	0	2694	c.2694G>A	c.(2692-2694)ggG>ggA	p.G898G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	898						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGGGTGGGGCCAAGGGACA	0.672000														24			15		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387541	88387541	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:88387541C>T	uc002ssr.3	+	2	560	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_5'Flank	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	159	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GCAGTACTGGCCGCCGCAGAG	0.602000														47			3		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239109	6239109	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:6239109G>A	uc001mck.4	-	8	2108	c.1749C>T	c.(1747-1749)tgC>tgT	p.C583C	FAM160A2_uc001mcl.4_Silent_p.C569C|FAM160A2_uc001mcm.2_Silent_p.C569C	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	569					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGGTACGGCAGGCTCGGA	0.622000														45			4		0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48522659	48522659	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:48522659C>T	uc001zwn.4	+	6	1150	c.934C>T	c.(934-936)Ctt>Ttt	p.L312F	SLC12A1_uc010uew.1_Missense_Mutation_p.L118F|SLC12A1_uc010bem.3_Missense_Mutation_p.L312F|SLC12A1_uc010uex.2_Missense_Mutation_p.L312F|SLC12A1_uc001zwq.4_Missense_Mutation_p.L83F|SLC12A1_uc001zwr.4_Missense_Mutation_p.L39F	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	312					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGTGGTGATTCTTCTAGGAAT	0.413000														14			7		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159670097	159670097	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:159670097C>T	uc010kjv.3	+	15	4917	c.4717C>T	c.(4717-4719)Cca>Tca	p.P1573S		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1573						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCAAGGCCACCAACCACCAC	0.483000														3			5		0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3640009	3640009	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:3640009C>T	uc001akp.3	+	5	818	c.708C>T	c.(706-708)gtC>gtT	p.V236V	TP73_uc021ofb.1_Silent_p.V236V|TP73_uc021ofc.1_Silent_p.V236V|TP73_uc021ofd.1_Silent_p.V236V|TP73_uc021ofe.1_Silent_p.V236V|TP73_uc021off.1_Silent_p.V236V|TP73_uc010nzj.2_Silent_p.V187V|TP73_uc021ofg.1_Silent_p.V187V|TP73_uc021ofh.1_Silent_p.V187V|TP73_uc021ofi.1_Silent_p.V187V|TP73_uc001akr.3_Silent_p.V187V|TP73_uc009vlk.2_Silent_p.V187V|TP73_uc001aks.3_Silent_p.V187V|TP73_uc010nzk.2_Silent_p.V165V	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	236	DNA-binding (Potential).				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGCAGAGCGTCGTGGTGCCCT	0.657000														18			13		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92441597	92441597	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:92441597G>A	uc001xzy.3	-	17	5750	c.5376C>T	c.(5374-5376)ttC>ttT	p.F1792F	TRIP11_uc010auf.2_Silent_p.F1528F	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1792	GRIP.				transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCGGTGTGTGGAAATGACCAA	0.443000			T	PDGFRB	AML									7			31		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499611	66499611	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:66499611C>T	uc004aee.1	+	0	421	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	X97876_uc004aed.1_Intron					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GGCTTTGTCTCTCTTCTGCCA	0.557000														4			3		0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42647392	42647392	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:42647392C>T	uc002yyw.3	+	8	1861	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	BACE2_uc002yyx.3_Silent_p.P416P|BACE2_uc002yyy.3_3'UTR|BACE2_uc010goo.3_Non-coding_Transcript	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	466					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGAGCGAGCCCATTTTGTGGA	0.557000														32			27		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43008396	43008396	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:43008396G>A	uc003otq.3	-	20	4227	c.3895C>T	c.(3895-3897)Cgc>Tgc	p.R1299C	CUL7_uc010jyg.3_Missense_Mutation_p.R578C|CUL7_uc011dvb.2_Missense_Mutation_p.R1383C|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1299					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGGGGAGGCGGTTGGGGAAG	0.637000														59			42		0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155127820	155127820	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:155127820G>A	uc004fnr.3	+	3	427	c.249G>A	c.(247-249)aaG>aaA	p.K83K	VAMP7_uc011naa.2_Silent_p.K44K|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Silent_p.K42K|VAMP7_uc004fns.3_Silent_p.K83K|VAMP7_uc011nac.2_Silent_p.K16K	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	83	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGAGATAAAGAAGAGGTTCC	0.403000														60			43		0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65705773	65705773	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:65705773A>G	uc003tuw.3	+	1	713	c.361A>G	c.(361-363)Aag>Gag	p.K121E	TPST1_uc010kzy.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	121					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AAGTAAAGAGAAGATCCGCCT	0.527000														37			34		0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103762668	103762668	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:103762668G>A	uc001tjt.2	-	3	344	c.256C>T	c.(256-258)Cca>Tca	p.P86S	C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.P86S|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	86										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AATTTACCTGGAAAATTCAGA	0.338000														0			6		0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232658990	232658990	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:232658990C>T	uc002vsh.1	+	3	359	c.256C>T	c.(256-258)Cca>Tca	p.P86S	COPS7B_uc010fxy.1_Missense_Mutation_p.P52S|COPS7B_uc002vsg.1_Missense_Mutation_p.P86S|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_5'UTR			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	86	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGAGAGCCTGCCAGAACTGAG	0.463000														29			17		0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820240	179820240	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:179820240C>T	uc001gnl.3	-	4	1107	c.293G>A	c.(292-294)gGa>gAa	p.G98E	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.G98E	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	98						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						ATGCCCTTTTCCGCCATCCAG	0.453000														39			27		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214462	13214462	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:13214462C>T	uc001ima.3	+	3	564	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	MCM10_uc001imb.3_Missense_Mutation_p.R146C|MCM10_uc001imc.3_Missense_Mutation_p.R146C	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	146					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGCCCAGCCCGTCTGCAAAA	0.393000														62			33		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773193	145773193	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:145773193G>A	uc003zds.1	-	5	1832	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	ARHGAP39_uc011llk.1_Missense_Mutation_p.S426L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.S426L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	426					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CAAGGAGTACGAACCACCGCC	0.701000														4			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106586059	106586059	+	RNA	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:106586059C>T	uc021ser.1	-	1812		c.34168G>A			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TCCTGTGCGCCCCCTGCAGCT	0.542000														35			32		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546763	9546763	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:9546763G>A	uc002wnl.2	-	5	1804	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	PAK7_uc002wnk.2_Missense_Mutation_p.S420F|PAK7_uc002wnj.2_Missense_Mutation_p.S420F|PAK7_uc010gby.1_Missense_Mutation_p.S420F	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	420	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGCTGGTCGGAGGAGGAGCC	0.632000														50			49		0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77232127	77232127	+	Silent	SNP	T	C	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:77232127T>C	uc002fez.3	+	5	1896	c.1566T>C	c.(1564-1566)cgT>cgC	p.R522R	MON1B_uc010vnf.2_Silent_p.R413R|MON1B_uc010vng.2_Silent_p.R376R|MON1B_uc002ffa.3_Silent_p.R402R|SYCE1L_uc010vnh.1_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	522							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TCTTCATTCGTTACCCACCCA	0.557000														97			68		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921430	25921430	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:25921430G>A	uc011dkb.2	-	2	534	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	SLC17A2_uc011dkc.2_Missense_Mutation_p.R151W|SLC17A2_uc003nfl.3_Missense_Mutation_p.R151W			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	151					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGGACTGTCCGAACCATGATG	0.438000														86			30		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112479058	112479058	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:112479058C>T	uc003kql.4	-	5	1158	c.742_splice	c.e5-1	p.C248_splice	MCC_uc003kqj.4_Splice_Site_p.C58_splice|MCC_uc003kqk.4_Splice_Site|MCC_uc011cwb.1_Splice_Site_p.C58_splice|MCC_uc010jcd.1_Splice_Site_p.C20_splice	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	58					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACTGCTCGCACTGGGAATAAG	0.507000														26			26		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141315071	141315071	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:141315071T>G	uc011chi.2	-	11	1492	c.1274A>C	c.(1273-1275)gAt>gCt	p.D425A	CLGN_uc003iii.3_Missense_Mutation_p.D425A	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	425					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AATAAAATTATCAAAGTAGAT	0.373000														34			18		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37693707	37693707	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:37693707A>T	uc003arf.3	+	4	453	c.337A>T	c.(337-339)Acc>Tcc	p.T113S	CYTH4_uc003ard.4_Missense_Mutation_p.T113S|CYTH4_uc003are.2_Missense_Mutation_p.T113S|CYTH4_uc011amw.2_Missense_Mutation_p.T56S	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	113	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						AGCCATTGGTACCTACCTGGG	0.532000														64			41		0	0	1	0	0
C19orf35	374872	broad.mit.edu	37	19	2276361	2276361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:2276361C>T	uc002lvn.2	-	3	840	c.740G>A	c.(739-741)tGg>tAg	p.W247*	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	247										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		TGCGCCTCTCCAGGGCGCCCC	0.711000														9			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058952	9058952	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9058952C>T	uc002mkp.3	-	2	28698	c.28494G>A	c.(28492-28494)gaG>gaA	p.E9498E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9500	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						CGGCCAGACTCTCATCTGAGG	0.478000														85			53		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125232330	125232330	+	RNA	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:125232330C>T	uc003pzq.3	-	6		c.2404G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		ATATGAATATCAATAAAACCC	0.423000			T	ETV6	B-ALL									9			12		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38265500	38265500	+	Splice_Site	SNP	G	A	A	rs144829002	by1000genomes	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:38265500G>A	uc001wuj.3	+	2	84	c.-18_splice	c.e2-1		TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Splice_Site|TTC6_uc001wui.3_Splice_Site					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTCTTCCAGAGGACAATATCT	0.234000														1			10		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71017109	71017109	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:71017109C>T	uc001jpf.4	+	13	2092	c.1959C>T	c.(1957-1959)gtC>gtT	p.V653V	HKDC1_uc010qje.2_Silent_p.V516V|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	653					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTGTTGCAGTCGTGAATGATA	0.438000														66			46		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873409	55873409	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:55873409G>A	uc010riy.2	+	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACAAAGAGGTGAAAAATGCTG	0.373000										HNSCC(53;0.14)				55			49		0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127464290	127464290	+	Missense_Mutation	SNP	G	C	C	rs147007817	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:127464290G>C	uc001liu.3	-	0	101	c.101C>G	c.(100-102)tCg>tGg	p.S34W		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	34					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCAGGTCCGAGCGGTCCCG	0.672000														25			19		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895689	17895689	+	Silent	SNP	G	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:17895689G>T	uc002nhg.3	+	25	2661	c.2382G>T	c.(2380-2382)gtG>gtT	p.V794V	FCHO1_uc010ebb.2_Silent_p.V794V|FCHO1_uc002nhh.2_Silent_p.V794V|FCHO1_uc010xpw.1_Silent_p.V744V	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	794										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCTGCCTGTGGGGGAGCCTG	0.652000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			35		6.05902e-23	6.17554e-23	1	1	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465742	24465742	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:24465742C>T	uc010tcw.2	-	2	708	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Intron|C1QTNF9B-AS1_uc009zzx.3_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.E230K	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	230	C1q.					collagen		p.E230K(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TGGTTGAATTCATTATACAGG	0.428000														105			6		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026207	79026207	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:79026207C>T	uc003kgc.3	+	1	1691	c.1619C>T	c.(1618-1620)cCa>cTa	p.P540L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	540	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCAGAAAGCCCATTGGTTTCC	0.428000														92			73		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70955078	70955078	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:70955078C>T	uc002ezr.3	-	45	7349	c.7198G>A	c.(7198-7200)Gaa>Aaa	p.E2400K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2401										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTTCCTTTCGATTGTCTCC	0.428000														44			36		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618092	89618092	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:89618092C>T	uc001dna.2	-	4	623	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	GBP2_uc001dmy.1_5'Flank	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	162						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCCTCAACTTCATCAGGTCTG	0.478000														52			56		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63667601	63667601	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:63667601C>T	uc011kdn.2	+	0	21	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GACCGGGACCCCCTGGAAGCC	0.567000														23			22		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153991451	153991451	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:153991451C>T	uc001fdw.3	-	32	4683	c.4611G>A	c.(4609-4611)atG>atA	p.M1537I	NUP210L_uc009woq.3_Missense_Mutation_p.M446I|NUP210L_uc010peh.2_Missense_Mutation_p.M1537I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1537						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATGAAAAATCATTGCAGTCC	0.438000														65			40		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179259069	179259069	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179259069C>T	uc002uly.3	+	24	3222	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.A868V|OSBPL6_uc010zfe.2_Missense_Mutation_p.A837V|OSBPL6_uc002ulz.3_Missense_Mutation_p.A832V|OSBPL6_uc002uma.3_Missense_Mutation_p.A872V	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	868					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTAGAAGCTGCAGCATCAGAG	0.348000														79			65		0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40778455	40778455	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:40778455C>T	uc002yxu.3	-	9	1679	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	LCA5L_uc002yxv.3_Missense_Mutation_p.E456K	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	456										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTTTCTTTTCTTGGTCTTCT	0.318000														45			30		0	0	1	0	0
HSPA7	3311	broad.mit.edu	37	1	161576950	161576950	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:161576950C>T	uc010pkp.1	+	0	1102	c.870C>T	c.(868-870)ttC>ttT	p.F290F						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		ACTCCCTGTTCGAGGGCGTGG	0.652000														13			8		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779256	159779256	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:159779256G>A	uc001fud.4	+	4	711	c.669G>A	c.(667-669)atG>atA	p.M223I	FCRL6_uc001fuc.2_Missense_Mutation_p.M230I|FCRL6_uc009wsz.1_Missense_Mutation_p.M128I|FCRL6_uc009wta.3_Missense_Mutation_p.M223I	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	223	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGGGGGACATGGTGCAGCTCC	0.612000														40			38		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55713462	55713462	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:55713462C>T	uc002qjq.3	-	5	1188	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	PTPRH_uc010esv.3_Missense_Mutation_p.G194E|PTPRH_uc002qjs.2_Missense_Mutation_p.G379E	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	372	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTGTTGATTCCATTCTTCCC	0.502000														72			47		0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52020304	52020304	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:52020304G>A	uc003dcp.3	+	5	717	c.393G>A	c.(391-393)gaG>gaA	p.E131E	ABHD14B_uc003dcn.3_5'Flank|ACY1_uc011bea.2_Silent_p.E221E|ACY1_uc011beb.2_Silent_p.E131E|ACY1_uc003dcq.3_Silent_p.E131E|ACY1_uc021wzb.1_Silent_p.E96E|ACY1_uc021wzc.1_Intron|ACY1_uc021wzd.1_Silent_p.E131E	NM_000666	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	131					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	TGAAGGTGGAGGGCCACCGGT	0.652000														22			11		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480522	206480522	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:206480522G>A	uc002var.2	+	22	3810	c.3603G>A	c.(3601-3603)atG>atA	p.M1201I	PARD3B_uc002vao.2_Missense_Mutation_p.M1100I|PARD3B_uc002vap.2_Missense_Mutation_p.M1139I|PARD3B_uc002vaq.2_Missense_Mutation_p.M1132I	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1201					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGAACCCCATGACTGCAGCCG	0.587000														50			31		0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117008756	117008756	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:117008756G>A	uc003vjb.2	-	10	1134	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	ASZ1_uc011kno.1_Silent_p.L357L|ASZ1_uc011knp.1_Silent_p.L149L	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	357					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GAAGAAAGTTGAGGAACTCAT	0.313000														50			53		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223060	25223060	+	Missense_Mutation	SNP	C	T	T	rs71461576		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:25223060C>T	uc021sgb.1	+	5	1607	c.565C>T	c.(565-567)Cca>Tca	p.P189S	SNRPN_uc001ywp.1_Missense_Mutation_p.P186S|SNRPN_uc001ywq.1_Missense_Mutation_p.P186S|SNRPN_uc001ywr.1_Missense_Mutation_p.P186S|SNRPN_uc001yws.1_Missense_Mutation_p.P186S|SNRPN_uc001ywt.1_Missense_Mutation_p.P186S|SNRPN_uc001ywy.1_Missense_Mutation_p.P186S|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.P186S	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	186	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AACCCCACCTCCAGGTAAGGG	0.547000									Prader-Willi syndrome					4			13		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71500648	71500648	+	Splice_Site	SNP	C	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:71500648C>A	uc001xmo.2	+	18	4115	c.3669_splice	c.e18-1	p.F1223_splice	PCNX_uc010are.1_Splice_Site_p.F1112_splice|PCNX_uc010arf.1_Splice_Site_p.F83_splice	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1223						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)		TCACATAAAGCTCTTTAGTGC	0.323000														3			15		6.72482e-11	6.76739e-11	1	1	0
HPS6	79803	broad.mit.edu	37	10	103825818	103825819	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:103825818_103825819CC>TT	uc001kuj.3	+	0	695_696	c.587_588CC>TT	c.(586-588)tcc>tTT	p.S196F		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	196						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTGCTGGCCTCCTGCAGACAAC	0.663000									Hermansky-Pudlak syndrome					33			17		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156347514	156347514	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:156347514C>T	uc003lwh.2	-	8	1070	c.1013_splice	c.e8-1	p.G338_splice	TIMD4_uc010jii.2_Splice_Site_p.G310_splice|TIMD4_uc003lwg.2_Splice_Site_p.G40_splice	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	338						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGAGTTTCCCTGAAAAGAC	0.453000														30			13		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699191	43699191	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:43699191C>T	uc002ovy.3	-	3	1046	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.R222Q	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	315	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.488000														129			91		0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61324857	61324857	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:61324857C>T	uc002saw.4	+	11	1538	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	KIAA1841_uc002sax.4_Missense_Mutation_p.S266L|KIAA1841_uc002say.3_Missense_Mutation_p.S412L	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	412										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATTGAATTTTCACATTGTCAA	0.328000														38			31		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102351	168102351	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:168102351G>A	uc002udx.3	+	8	4538	c.4449G>A	c.(4447-4449)caG>caA	p.Q1483Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.Q1308Q|XIRP2_uc010fpq.3_Silent_p.Q1261Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1308					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGATGTGCAGAAAGGTGATG	0.378000														57			35		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24927558	24927558	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:24927558C>T	uc001mqs.3	+	5	692	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	LUZP2_uc009yif.3_Missense_Mutation_p.L54F|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	140						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAAAACAAACTCTTGTCAGG	0.323000														4			16		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815304	167815304	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:167815304G>A	uc001ger.3	-	19	2933	c.2635C>T	c.(2635-2637)Ctt>Ttt	p.L879F	ADCY10_uc010plj.2_Missense_Mutation_p.L726F|ADCY10_uc009wvk.3_Missense_Mutation_p.L787F|ADCY10_uc009wvl.3_Missense_Mutation_p.L878F	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	879					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCTTTTGAAGCTCCTTGCCA	0.463000														69			60		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284042	159284042	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:159284042G>A	uc010piu.2	-	0	408	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TCTTACCCATGATGACTGAAT	0.507000														45			59		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459715	107459715	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:107459715C>T	uc002tdq.3	-	1	838	c.719G>A	c.(718-720)gGg>gAg	p.G240E	ST6GAL2_uc002tdr.3_Missense_Mutation_p.G240E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G240E	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	240					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTCCCGCTTCCCGCGGAAGCG	0.677000														3			17		0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2139245	2139245	+	Missense_Mutation	SNP	G	A	A	rs141861979	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:2139245G>A	uc004cqf.4	-	6	879	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	277							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGCGTAGATGGAAGTCCACGC	0.512000														63			55		0	0	1	0	0
C20orf111	51526	broad.mit.edu	37	20	42826004	42826004	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:42826004G>A	uc002xlk.3	-	3	819	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	189										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GGTTTAGCTTGGAAACTGATT	0.493000														65			51		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98778392	98778392	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:98778392C>T	uc001kmw.2	-	27	3172	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	974	EGF-like 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCCCCATTTTCACAGGGGCCA	0.627000														6			5		0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178194175	178194175	+	RNA	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:178194175C>T	uc011dgk.2	-	5		c.816G>A			AACSP1_uc011dgl.2_Non-coding_Transcript|AACSP1_uc003mjk.3_Non-coding_Transcript					Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA.																		AGGTTTCCATCCTCCCTGTGC	0.587000														8			4		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105889341	105889341	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:105889341G>A	uc002tcq.3	-	9	2027	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.S417F|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.S648F	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	648					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTATAAATCAGATTTCTGGAG	0.557000														26			14		0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74645530	74645530	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:74645530G>A	uc001jtc.3	+	7	1027	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	MCU_uc009xqr.3_Missense_Mutation_p.D315N|MCU_uc001jtd.3_Missense_Mutation_p.D287N	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	336					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GAGACTGAGAGACCCATTACA	0.403000														36			25		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133885437	133885437	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:133885437G>A	uc003ytw.3	+	4	650	c.609G>A	c.(607-609)atG>atA	p.M203I		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	203	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGACATGATGATTTTTGATC	0.552000														18			11		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74641751	74641751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:74641751G>A	uc004ecg.3	-	8	1289	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	ZDHHC15_uc004ech.3_Nonsense_Mutation_p.Q262*|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	271						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AACACCTGCTGGATATTCTTG	0.453000														2			24		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32087495	32087495	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:32087495C>T	uc003jhl.3	+	19	4329	c.3941C>T	c.(3940-3942)cCc>cTc	p.P1314L	PDZD2_uc003jhm.3_Missense_Mutation_p.P1314L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1314					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCAGCACACCCCACAATACC	0.652000														45			24		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4171979	4171979	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:4171979C>T	uc003smx.3	+	27	4291	c.4152C>T	c.(4150-4152)ctC>ctT	p.L1384L	SDK1_uc010kso.3_Silent_p.L660L|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1384	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGTGAGGCTCGTGTTCCCCG	0.607000														13			6		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892263	9892263	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:9892263C>T	uc010uym.2	-	11	2537	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	GRIN2A_uc002czo.4_Missense_Mutation_p.E743K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E586K|GRIN2A_uc002czr.4_Missense_Mutation_p.E743K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	743					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGCAGCCTTCATCCCTCCCA	0.537000														37			21		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125131980	125131980	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:125131980C>T	uc003yqw.3	+	40	5729	c.5523C>T	c.(5521-5523)ttC>ttT	p.F1841F	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1841						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcgtccttttcatcTACACCT	0.463000														84			61		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939545	12939545	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:12939545C>T	uc004cvd.3	+	2	2610	c.2440C>T	c.(2440-2442)Ccc>Tcc	p.P814S	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.P796S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	796	LRRCT.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.P814T(2)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTCAAAATTCCCAGACTGGT	0.433000														7			69		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48376369	48376369	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:48376369G>A	uc001rqu.3	-	33	2398	c.2217C>T	c.(2215-2217)ccC>ccT	p.P739P	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.P670P	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	739	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGCCCCAGGGGGGCCTGCTG	0.627000														1			8		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167297944	167297944	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:167297944G>A	uc002udu.2	-	13	2249	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	707					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGTAAAAAGGAATACACCAG	0.393000														21			21		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50256137	50256137	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:50256137C>T	uc003cyn.4	+	12	1287	c.1146C>T	c.(1144-1146)atC>atT	p.I382I		NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	383					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CAGTGCCCATCGTTCTGTTCC	0.627000														28			15		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894137	10894137	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:10894137G>A	uc003mzo.3	+	2	412	c.116G>A	c.(115-117)gGa>gAa	p.G39E	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	39						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CATGATAAAGGATTTCAGAAA	0.299000														29			11		0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44351017	44351017	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:44351017C>T	uc002xpe.1	+	0	30	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 4 (SPINT4), mRNA.	4						extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				ATGAAGTCTGCCAAGCTGGGA	0.448000														43			38		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7721804	7721804	+	Silent	SNP	A	C	C	rs140754490		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:7721804A>C	uc003bqm.2	+	8	2794	c.2520A>C	c.(2518-2520)ctA>ctC	p.L840L	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.L840L|GRM7_uc003bql.2_Silent_p.L840L|GRM7_uc003bqn.1_Silent_p.L423L	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	840					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGGGATGCTATACATGCCGA	0.473000														36			41		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9538850	9538850	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:9538850G>A	uc010coc.3	+	11	1708	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	WDR16_uc002gly.3_Silent_p.G483G|WDR16_uc002glz.3_Silent_p.G415G			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	483						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCACCGATGGGACTTGTATCA	0.502000														6			23		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28412977	28412977	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:28412977C>T	uc001iua.1	-	9	1002	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E200K|MPP7_uc009xla.2_Missense_Mutation_p.E200K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	200	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGTATTATTTCCTCAGGCCTT	0.338000														59			31		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365505	36365505	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:36365505G>A	uc002oce.3	+	8	1294	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	APLP1_uc010xsz.2_Missense_Mutation_p.D347N|APLP1_uc002ocf.3_Missense_Mutation_p.D386N|APLP1_uc002ocg.3_Missense_Mutation_p.D289N|APLP1_uc010xta.2_Missense_Mutation_p.D380N	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	386					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTATCAACGACCAGCGCCG	0.662000														48			42		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540267	96540267	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:96540267G>A	uc010qnz.2	+	3	493	c.493G>A	c.(493-495)Gat>Aat	p.D165N	CYP2C19_uc009xus.1_Missense_Mutation_p.D30N|CYP2C19_uc010qny.2_Missense_Mutation_p.D143N	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	165					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTCACCCTGTGATCCCACTTT	0.318000														92			47		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889911	30889911	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:30889911C>T	uc003xin.3	-	0	407	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.G130S	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	130						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTCAGGCCCAGGTGGGCA	0.597000														79			50		0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366262	7366262	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:7366262C>T	uc002ghc.4	-	3	2289	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	ZBTB4_uc002ghd.4_Missense_Mutation_p.G680E	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACTGGCACCTCCAGCAGCTCC	0.662000														7			39		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230628	7230628	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:7230628C>T	uc003mxb.3	+	9	2788	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	RREB1_uc021yky.1_Missense_Mutation_p.R766C|RREB1_uc003mxc.3_Missense_Mutation_p.R766C|RREB1_uc010jnx.3_Missense_Mutation_p.R766C|RREB1_uc021ykz.1_Missense_Mutation_p.R766C|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	766					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAAGCACTATCGTGCCCTGCG	0.692000														39			19		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993112	28993112	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:28993112G>A	uc002kwr.2	+	14	2869	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	DSG4_uc002kwq.2_Missense_Mutation_p.E893K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	893					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.Y911Y(1)|p.G912C(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTCCAAGAAGAAATGGCAGC	0.423000														106			67		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714785	65714785	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:65714785G>A	uc001ogk.1	+	3	518	c.486G>A	c.(484-486)aaG>aaA	p.K162K	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	163								p.S162T(1)		endometrium(2)|kidney(3)|lung(9)	14						GCTGCTGGAAGACAGAGGCGC	0.652000														16			10		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49164630	49164630	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:49164630G>A	uc001rsh.4	-	18	3835	c.3175C>T	c.(3175-3177)Ctg>Ttg	p.L1059L	ADCY6_uc001rsi.4_Silent_p.L1006L|ADCY6_uc001rsj.4_Silent_p.L1059L|ADCY6_uc010slw.1_3'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	1059					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TAGTCAGCCAGGGCAGTGATG	0.537000														11			41		0	0	1	0	0
T	6862	broad.mit.edu	37	6	166576055	166576055	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:166576055G>A	uc003qut.1	-	5	1073	c.787C>T	c.(787-789)Cct>Tct	p.P263S	T_uc003quu.1_Missense_Mutation_p.P262S|T_uc003quv.1_Intron	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	262					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CCAAACTGAGGATGAGGATTT	0.597000									Chordoma, Familial Clustering of					21			12		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594480	70594480	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:70594480C>T	uc003xyl.3	-	6	2428	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	SLCO5A1_uc010lzb.3_Missense_Mutation_p.G519E|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.G574E	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	574	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTATGTAATTCCATCTGATCC	0.433000														48			44		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36228131	36228131	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:36228131C>T	uc021usv.1	+	32	7517	c.7517C>T	c.(7516-7518)cCc>cTc	p.P2506L	MLL2_uc021usu.1_Missense_Mutation_p.P1320L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5335	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCCTGAATCCCCATGGGGCT	0.637000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				4			3		0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220025	48220025	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:48220025C>G	uc002phj.4	+	1	406	c.156C>G	c.(154-156)gaC>gaG	p.D52E	EHD2_uc010xyu.2_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	52					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCCTGGAGGACGCAGACTTCG	0.667000														19			13		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107752349	107752349	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:107752349C>T	uc010ljo.1	-	3	319	c.235G>A	c.(235-237)Gat>Aat	p.D79N	LAMB4_uc003vey.2_Missense_Mutation_p.D79N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	79	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCATACGGATCATATGGAAAT	0.353000														61			55		0	0	1	0	0
SPINK6	404203	broad.mit.edu	37	5	147594480	147594480	+	Silent	SNP	A	G	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:147594480A>G	uc003lpa.3	+	3	513	c.210A>G	c.(208-210)ggA>ggG	p.G70G	SPINK6_uc021yff.1_Silent_p.G70G	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA.	70	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTGGTGGAAAGATTAGCC	0.368000														27			12		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239441	2239441	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:2239441G>A	uc010bsg.1	-	3	401	c.369C>T	c.(367-369)gcC>gcT	p.A123A		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	123					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GACCATGCTGGGCCGCCAGGT	0.711000														17			6		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768690	31768690	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:31768690C>T	uc002nsy.4	-	1	2074	c.2009G>A	c.(2008-2010)aGc>aAc	p.S670N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	670					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGGCTGGGGCTGTTCTCCTG	0.662000														23			19		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397939	111397939	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:111397939C>T	uc003iab.4	+	0	711	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	123					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCATCTCCATCAACCTGAGCG	0.637000														83			56		0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804653	43804653	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:43804653C>T	uc002xng.3	+	1	255	c.231C>T	c.(229-231)ccC>ccT	p.P77P		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	77	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	p.P77P(2)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCCTGCCCCATTATCTTGA	0.498000														68			34		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140734911	140734911	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:140734911C>T	uc003ljq.2	+	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.I48I	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	48	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAACATCGCCAAGGACC	0.627000														49			33		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851444	34851444	+	Silent	SNP	C	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:34851444C>A	uc003teh.1	+	3	575	c.447C>A	c.(445-447)gcC>gcA	p.A149A	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.A149A|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.A149A|NPSR1_uc010kww.1_Silent_p.A138A|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	149						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.A149V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GATACCATGCCATCGTCTACC	0.478000														51			38		7.05121e-23	7.17531e-23	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2039611	2039611	+	Silent	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:2039611C>T	uc003zhc.3	+	3	600	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SMARCA2_uc003zhd.3_Silent_p.P167P|SMARCA2_uc010mha.3_Silent_p.P158P	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	167					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAGCCAGCCCAACAGAGGTC	0.602000														9			40		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29436869	29436869	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:29436869C>T	uc002rmy.3	-	23	4676	c.3724G>A	c.(3724-3726)Gaa>Aaa	p.E1242K	ALK_uc010ymo.2_Missense_Mutation_p.E174K	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1242	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAGTGGTTTTCCTCCAAATAC	0.572000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					34			18		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27346345	27346345	+	Silent	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:27346345G>A	uc003cdt.2	-	12	1195	c.921C>T	c.(919-921)ctC>ctT	p.L307L		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	307							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGCTCCAGAGGAGCTTCAAGT	0.522000														42			32		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566706	20566706	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:20566706C>T	uc002dhj.4	-	4	691	c.481G>A	c.(481-483)Gat>Aat	p.D161N	ACSM2B_uc002dhk.4_Missense_Mutation_p.D161N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D161N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G160G(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATGACTTCATCCCCAGCAACA	0.453000														82			78		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027835	55027835	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:55027835G>A	uc002xxp.2	+	5	1828	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	CASS4_uc002xxq.4_Missense_Mutation_p.E535K|CASS4_uc010zze.1_Missense_Mutation_p.E481K|CASS4_uc002xxr.2_Missense_Mutation_p.E535K|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	535					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGAAACAAAGGAAAGCTTGGA	0.498000														34			21		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177226461	177226461	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:177226461G>A	uc001glf.3	+	3	922	c.610G>A	c.(610-612)Gac>Aac	p.D204N	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Missense_Mutation_p.D99N	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	204						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTACTTCATCGACAGAGAGAG	0.597000														15			23		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801781	9801781	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9801781C>T	uc021uop.1	-	5	1044	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ZNF812_uc010xkx.2_Missense_Mutation_p.G29E	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	133	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGTTCCTGTCCAATAGAGGC	0.408000														25			28		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418151	85418153	+	In_Frame_Del	DEL	ATG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:85418151_85418153delATG	uc001dkm.3	-	4	867_869	c.626_628delCAT	c.(625-630)tcattc>ttc	p.S209del	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	209						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AGTCTGAAGAATGATGAGTTCTT	0.384													---	55	---	---	20	---					
RPL5	6125	broad.mit.edu	37	1	93299169	93299170	+	Frame_Shift_Ins	INS	-	AAAT	AAAT	rs150375325	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:93299169_93299170insAAAT	uc001doz.3	+	2	219_220	c.141_142insAAAT	c.(139-144)cccaaafs	p.P47fs	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	47					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		ACAACACACCCAAATACAGGAT	0.332													---	36	---	---	33	---					
ITGA10	8515	broad.mit.edu	37	1	145528605	145528606	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:145528605_145528606delCT	uc001eoa.3	+	4	478_479	c.402_403delCT	c.(400-405)agctctfs	p.S134fs	ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.2_Intron|ITGA10_uc009wiw.3_Intron|ITGA10_uc010oyw.2_Frame_Shift_Del_p.S79fs	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	134					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.S135P(2)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGTGGCAGCTCTGTCTTCAG	0.594													---	50	---	---	34	---					
TMEM18	129787	broad.mit.edu	37	2	669616	669617	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:669616_669617delTC	uc002qwl.3	-	4	480_481	c.386_387delGA	c.(385-387)agafs	p.R129fs	TMEM18_uc002qwk.3_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	Homo sapiens transmembrane protein 18 (TMEM18), mRNA.	129					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		tttcctttcttctctcttGTGC	0.450													---	28	---	---	12	---					
EIF2AK2	5610	broad.mit.edu	37	2	37347186	37347187	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:37347186_37347187delTT	uc010ynh.2	-	12	1720_1721	c.1163_1164delAA	c.(1162-1164)aaafs	p.K388fs	EIF2AK2_uc010fab.2_Frame_Shift_Del_p.K347fs|EIF2AK2_uc010yng.2_Frame_Shift_Del_p.K388fs|EIF2AK2_uc010fac.3_Frame_Shift_Del_p.K388fs|EIF2AK2_uc010fad.2_Frame_Shift_Del_p.K335fs	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	388	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGCCAAAACTTTGTCTAGTTT	0.347													---	28	---	---	15	---					
MAP4K4	9448	broad.mit.edu	37	2	102504379	102504380	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:102504379_102504380delGA	uc002tbc.3	+	29	4097_4098	c.3719_3720delGA	c.(3718-3720)ggafs	p.G1240fs	MAP4K4_uc002tbf.3_Frame_Shift_Del_p.G1193fs|MAP4K4_uc002tbd.3_Frame_Shift_Del_p.G1132fs|MAP4K4_uc010yvy.2_Frame_Shift_Del_p.G1155fs|MAP4K4_uc002tbh.3_Frame_Shift_Del_p.G1085fs|MAP4K4_uc002tbg.3_Frame_Shift_Del_p.G1159fs|MAP4K4_uc002tbi.3_Frame_Shift_Del_p.G962fs|MAP4K4_uc010yvz.2_Frame_Shift_Del_p.G1199fs|MAP4K4_uc002tbk.3_Frame_Shift_Del_p.G614fs|MAP4K4_uc021vlq.1_Frame_Shift_Del_p.G353fs|MAP4K4_uc002tbl.3_Frame_Shift_Del_p.G345fs	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	1159					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTACAGTGGGGAGAGATGCCTA	0.441													---	105	---	---	35	---					
R3HDM1	23518	broad.mit.edu	37	2	136389537	136389538	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:136389537_136389538delTC	uc002tuo.3	+	8	1034_1035	c.664_665delTC	c.(664-666)tctfs	p.S222fs	R3HDM1_uc010fni.3_Frame_Shift_Del_p.S220fs|R3HDM1_uc002tup.3_Frame_Shift_Del_p.S166fs|R3HDM1_uc010zbh.2_Frame_Shift_Del_p.S54fs	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	222	R3H.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAGTGGGAAGTCTGTCATAGTA	0.327													---	79	---	---	43	---					
HOXD8	3234	broad.mit.edu	37	2	176996093	176996094	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:176996093_176996094delCT	uc002uko.3	+	1	1253_1254	c.626_627delCT	c.(625-627)actfs	p.T209fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Frame_Shift_Del_p.T25fs|HOXD8_uc002ukp.3_Frame_Shift_Del_p.T208fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	209					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGCTTCCAAACTCTAGAGTTGG	0.416													---	129	---	---	80	---					
ARL13B	200894	broad.mit.edu	37	3	93768262	93768263	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:93768262_93768263delAG	uc003drc.3	+	7	1322_1323	c.1037_1038delAG	c.(1036-1038)aagfs	p.K346fs	ARL13B_uc010hop.3_Frame_Shift_Del_p.K197fs|ARL13B_uc003drf.3_Frame_Shift_Del_p.K346fs|ARL13B_uc003drg.3_Frame_Shift_Del_p.K243fs|ARL13B_uc003drd.3_Frame_Shift_Del_p.K239fs|ARL13B_uc003dre.3_Frame_Shift_Del_p.K331fs	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	346							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AATGGTAAAAAGAAAACTAAGA	0.366													---	25	---	---	8	---					
C4orf21	55345	broad.mit.edu	37	4	113506804	113506815	+	In_Frame_Del	DEL	TATAAAATGATA	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:113506804_113506815delTATAAAATGATA	uc003iau.3	-	13	4194_4205	c.3983_3994delTATCATTTTATA	c.(3982-3996)atatcattttataca>aca	p.ISFY1328del	C4orf21_uc003iav.3_Non-coding_Transcript	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCAATGATGTATAAAATGATATGTCAACTTT	0.335													---	23	---	---	14	---					
DDX60	55601	broad.mit.edu	37	4	169169387	169169388	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:169169387_169169388delCA	uc003irp.3	-	28	4206_4207	c.3914_3915delTG	c.(3913-3915)gtgfs	p.V1305fs		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1305	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GAGCAAAAACCACAGATTTACA	0.347													---	43	---	---	20	---					
SEC24A	10802	broad.mit.edu	37	5	133997226	133997228	+	In_Frame_Del	DEL	AAT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:133997226_133997228delAAT	uc003kzs.3	+	1	807_809	c.515_517delAAT	c.(514-519)caatat>cat	p.172_173QY>H	SEC24A_uc021ydr.1_In_Frame_Del_p.172_173QY>H|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.	172	Pro-rich.				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)			ACAAATCATCAATATGTTTCTTC	0.345													---	55	---	---	30	---					
HIVEP1	3096	broad.mit.edu	37	6	12121702	12121703	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:12121702_12121703delAG	uc003nac.3	+	3	1853_1854	c.1674_1675delAG	c.(1672-1677)acagagfs	p.T558fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	558					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGCTGTGACAGAGTTACCGAA	0.446													---	56	---	---	15	---					
DOPEY1	23033	broad.mit.edu	37	6	83869530	83869531	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:83869530_83869531delTG	uc011dyy.2	+	36	7046_7047	c.6786_6787delTG	c.(6784-6789)tctgtgfs	p.S2262fs	DOPEY1_uc003pjs.1_Frame_Shift_Del_p.S2271fs|DOPEY1_uc010kbl.1_Frame_Shift_Del_p.S2262fs|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2271					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGGGCCCTCTGTGGCTGGTCT	0.465													---	67	---	---	23	---					
CYB5R4	51167	broad.mit.edu	37	6	84627749	84627750	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:84627749_84627750delAG	uc003pkf.3	+	5	603_604	c.471_472delAG	c.(469-474)acagatfs	p.T157fs		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	157					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GCCAAGTGACAGATACACTTGC	0.287													---	50	---	---	33	---					
DLC1	10395	broad.mit.edu	37	8	12943882	12943882	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:12943882delA	uc003wwm.2	-	16	4827	c.4383delT	c.(4381-4383)gttfs	p.V1461fs	DLC1_uc003wwk.1_Frame_Shift_Del_p.V1024fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.V1058fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.V950fs	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1461	START.				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	p.R1460M(1)		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						AGAGCACATTAACCCTCACAC	0.478													---	54	---	---	60	---					
PSIP1	11168	broad.mit.edu	37	9	15472710	15472711	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:15472710_15472711delTC	uc003zlv.4	-	9	1226_1227	c.896_897delGA	c.(895-897)agafs	p.R299fs	PSIP1_uc003zlw.4_Frame_Shift_Del_p.R299fs|PSIP1_uc003zlz.4_Frame_Shift_Del_p.R299fs|PSIP1_uc003zma.4_Frame_Shift_Del_p.R290fs|PSIP1_uc003zly.3_Frame_Shift_Del_p.R299fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	299					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GCATATTCCTTCTGTGAGCAGT	0.371													---	10	---	---	55	---					
ABL1	25	broad.mit.edu	37	9	133760887	133760888	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:133760887_133760888delTG	uc004bzw.3	+	10	3213_3214	c.3210_3211delTG	c.(3208-3213)tatgtgfs	p.Y1070fs	ABL1_uc004bzv.3_Frame_Shift_Del_p.Y1089fs	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	1070	F-actin-binding.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCGTGAGCTATGTGGATTCCAT	0.564			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								---	71	---	---	40	---					
H19	283120	broad.mit.edu	37	11	2016742	2016743	+	RNA	DEL	AG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:2016742_2016743delAG	uc021qbx.1	-	0		c.61_62delCT			H19_uc021qby.1_Non-coding_Transcript|H19_uc001lva.4_Non-coding_Transcript|H19_uc021qbz.1_Non-coding_Transcript					Homo sapiens PRO2605 mRNA, complete cds.																		CGGGGGAAACAGAGTCGTGGAG	0.470									Beckwith-Wiedemann syndrome				---	8	---	---	5	---					
OR4A15	81328	broad.mit.edu	37	11	55136178	55136179	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:55136178_55136179delTG	uc010rif.2	+	0	819_820	c.819_820delTG	c.(817-822)actgtgfs	p.T273fs		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	273					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						CCCACGTCACTGTGGTCATTTT	0.401													---	142	---	---	63	---					
PHB2	11331	broad.mit.edu	37	12	7077150	7077151	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:7077150_7077151delCT	uc021quf.1	-	4	721_722	c.511_512delAG	c.(511-513)aggfs	p.R171fs	PHB2_uc021qug.1_Frame_Shift_Del_p.R171fs|PHB2_uc010sft.1_Frame_Shift_Del_p.R171fs|PHB2_uc010sfu.1_Frame_Shift_Del_p.R171fs|SCARNA12_uc001qsg.3_5'Flank	NM_007273	NP_001138303	Q99623	PHB2_HUMAN	Homo sapiens prohibitin 2 (PHB2), transcript variant 2, mRNA.	171	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						GTCCTTGGCCCTCTCTGTCAGC	0.579													---	93	---	---	29	---					
MRPS31	10240	broad.mit.edu	37	13	41341131	41341132	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:41341131_41341132delCT	uc001uxm.4	-	1	265_266	c.190_191delAG	c.(190-192)agtfs	p.S64fs		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	64						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		ACAGATCACACTGTTAGTGCCA	0.342													---	68	---	---	7	---					
SPINT1	6692	broad.mit.edu	37	15	41146652	41146653	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:41146652_41146653delAC	uc001zna.3	+	6	1250_1251	c.1046_1047delAC	c.(1045-1047)gacfs	p.D349fs	SPINT1_uc001znb.3_Frame_Shift_Del_p.D333fs|SPINT1_uc001znc.3_Frame_Shift_Del_p.D333fs|SPINT1_uc010ucs.2_Frame_Shift_Del_p.D340fs	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	349	LDL-receptor class A.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGCTGCATCGACAGTTTCCTGG	0.614													---	45	---	---	35	---					
CDAN1	146059	broad.mit.edu	37	15	43028089	43028090	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:43028089_43028090delTC	uc001zql.3	-	2	873_874	c.756_757delGA	c.(754-759)gagatgfs	p.E252fs	CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	252						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTCCTGAGCATCTCTCGCTCCT	0.589													---	44	---	---	42	---					
CTRL	1506	broad.mit.edu	37	16	67964690	67964692	+	In_Frame_Del	DEL	ACA	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:67964690_67964692delACA	uc002euw.3	-	3	278_280	c.255_257delTGT	c.(253-258)gttgtc>gtc	p.85_86VV>V	PSMB10_uc002eux.2_3'UTR	NM_001907	NP_001898	P40313	CTRL_HUMAN	Homo sapiens chymotrypsin-like (CTRL), mRNA.	85	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CTCGCCCAGGACAACAAAATGGC	0.635													---	58	---	---	37	---					
FTSJD1	55783	broad.mit.edu	37	16	71318700	71318701	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:71318700_71318701delAT	uc021tkr.1	-	0	1123_1124	c.1123_1124delAT	c.(1123-1125)attfs	p.I375fs	FTSJD1_uc010cga.3_Frame_Shift_Del_p.I375fs|FTSJD1_uc002ezy.4_Frame_Shift_Del_p.I375fs|FTSJD1_uc002ezz.4_Frame_Shift_Del_p.I375fs	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	375						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTTTTCAGAAATAGTCTCTAGC	0.337													---	18	---	---	21	---					
INCA1	388324	broad.mit.edu	37	17	4891810	4891812	+	In_Frame_Del	DEL	CCT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:4891810_4891812delCCT	uc002gak.3	-	7	879_881	c.599_601delAGG	c.(598-603)gaggct>gct	p.E200del	CAMTA2_uc010cku.2_5'Flank|CAMTA2_uc002gag.2_5'Flank|CAMTA2_uc002gah.2_5'Flank|CAMTA2_uc002gai.2_5'Flank|CAMTA2_uc010vsu.2_5'Flank|INCA1_uc002gam.3_In_Frame_Del_p.E185del|INCA1_uc002gaj.3_In_Frame_Del_p.E200del|INCA1_uc002gal.3_In_Frame_Del_p.E185del	NM_001167987	NP_001161459	Q0VD86	INCA1_HUMAN	Homo sapiens inhibitor of CDK, cyclin A1 interacting protein 1 (INCA1), transcript variant 2, mRNA.	200						nucleus				upper_aerodigestive_tract(1)	1						GAGGCACAAGCCTCCTCCTGATC	0.532													---	9	---	---	30	---					
TP53	7157	broad.mit.edu	37	17	7577112	7577113	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:7577112_7577113delCA	uc002gim.2	-	7	1019_1020	c.825_826delTG	c.(823-828)tgtgccfs	p.C275fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.C275fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.C143fs|TP53_uc010cnf.1_Frame_Shift_Del_p.C143fs|TP53_uc002gii.1_Frame_Shift_Del_p.C143fs|TP53_uc010cni.1_Frame_Shift_Del_p.C275fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C275fs|TP53_uc002gij.2_Frame_Shift_Del_p.C275fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(35)|p.A276P(29)|p.V274F(19)|p.A276S(18)|p.V274A(16)|p.C275W(14)|p.A276T(14)|p.V274L(10)|p.C275C(8)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.A276V(7)|p.V274G(7)|p.A276D(6)|p.A276G(4)|p.V274I(4)|p.C275fs*70(3)|p.V274V(3)|p.A276_R283delACPGRDRR(2)|p.A276fs*64(2)|p.A276fs*68(2)|p.A276fs*69(2)|p.R273_C275delRVC(2)|p.C275_A276ins10(2)|p.V274_P278del(2)|p.C275*(2)|p.F270_D281del12(2)|p.C275fs*31(2)|p.A276fs*31(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*70(2)|p.?(2)|p.L265_K305del41(2)|p.A276_C277delAC(2)|p.C275S(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.A276A(2)|p.A276fs*29(2)|p.V274fs*71(1)|p.S269fs*21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCAGGACAGGCACAAACACGCA	0.550		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	4	---	---	17	---					
AOC2	314	broad.mit.edu	37	17	40997726	40997727	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:40997726_40997727delGT	uc002ibu.3	+	0	1118_1119	c.1083_1084delGT	c.(1081-1086)gagtgtfs	p.E361fs	AOC2_uc002ibt.3_Frame_Shift_Del_p.E361fs	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	361					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTGTCCAGGAGTGTGTATCTAT	0.530													---	23	---	---	71	---					
PRKAR1A	5573	broad.mit.edu	37	17	66526578	66526581	+	Frame_Shift_Del	DEL	ACTG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:66526578_66526581delACTG	uc002jhg.3	+	10	1314_1317	c.1134_1137delACTG	c.(1132-1137)tcactgfs	p.S378fs	PRKAR1A_uc002jhh.3_Frame_Shift_Del_p.S378fs|PRKAR1A_uc002jhi.3_Frame_Shift_Del_p.S378fs|PRKAR1A_uc002jhj.3_Frame_Shift_Del_p.S378fs|PRKAR1A_uc002jhk.3_Frame_Shift_Del_p.S254fs|PRKAR1A_uc002jhl.3_Frame_Shift_Del_p.S378fs	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	378					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GTTTTGTGTCACTGTCTGTCTGAA	0.480			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				---	9	---	---	35	---					
ZBTB7A	51341	broad.mit.edu	37	19	4054105	4054107	+	In_Frame_Del	DEL	TCT	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:4054105_4054107delTCT	uc002lzh.3	-	1	1199_1201	c.1124_1126delAGA	c.(1123-1128)aagatc>atc	p.K375del	ZBTB7A_uc002lzi.3_In_Frame_Del_p.K375del	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	375					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGCTCGGATCTTCTTCTCCAC	0.650													---	53	---	---	31	---					
ZNF260	339324	broad.mit.edu	37	19	37005633	37005634	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:37005633_37005634delCA	uc002oee.2	-	3	1429_1430	c.507_508delTG	c.(505-510)tgtggafs	p.C169fs	ZNF260_uc010eey.2_Frame_Shift_Del_p.C169fs|ZNF260_uc002oef.2_Frame_Shift_Del_p.C169fs|ZNF260_uc002oed.2_Frame_Shift_Del_p.C169fs|ZNF260_uc021uti.1_Frame_Shift_Del_p.C169fs	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	169					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AAGGCTCTTCCACACTGATTAC	0.396													---	126	---	---	84	---					
ZNF226	7769	broad.mit.edu	37	19	44679960	44679961	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:44679960_44679961delAG	uc002oys.3	+	5	725_726	c.545_546delAG	c.(544-546)cagfs	p.Q182fs	ZNF226_uc002oyp.3_Frame_Shift_Del_p.Q182fs|ZNF226_uc002oyq.3_Frame_Shift_Del_p.Q65fs|ZNF226_uc002oyr.3_Frame_Shift_Del_p.Q65fs|ZNF226_uc002oyt.3_Frame_Shift_Del_p.Q182fs	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				ACTGAGTCACAGAGATTGAACA	0.376													---	24	---	---	11	---					
ZNF512B	57473	broad.mit.edu	37	20	62595733	62595734	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:62595733_62595734delTC	uc002yhl.1	-	6	1326_1327	c.1272_1273delGA	c.(1270-1275)cagaaafs	p.Q424fs		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGGTGTTTTCTGTTTCCTTC	0.599													---	137	---	---	110	---					
UMODL1	89766	broad.mit.edu	37	21	43504228	43504228	+	Frame_Shift_Del	DEL	T	-	-	rs7278485	by1000genomes	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:43504228delT	uc002zag.1	+	2	354	c.354delT	c.(352-354)cctfs	p.P118fs	UMODL1_uc002zad.1_Frame_Shift_Del_p.P46fs|UMODL1_uc002zae.1_Frame_Shift_Del_p.P46fs|UMODL1_uc002zaf.1_Frame_Shift_Del_p.P118fs|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	118	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.P117R(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CGTCAAGACCTGGGGCCTGCC	0.572													---	136	---	---	73	---					
