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
MEGF11	84465	broad.mit.edu	37	15	66210372	66210372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:66210372C>T	uc002apm.2	-	15	2159	c.2018G>A	c.(2017-2019)gGg>gAg	p.G673E	MEGF11_uc002apl.2_Missense_Mutation_p.G598E|MEGF11_uc002apn.1_Missense_Mutation_p.G673E	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	673	EGF-like 11.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTGCAGGTCCCGTTGTTGGC	0.617000														27			14		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189026074	189026074	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:189026074C>T	uc011cle.1	-	1	424	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	TRIML2_uc003izl.2_Missense_Mutation_p.E18K|TRIML2_uc011clf.1_Missense_Mutation_p.E68K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	18							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTCAATATTTCCTGGAATAAC	0.393000														35			15		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7559737	7559737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:7559737C>T	uc003src.1	-	5	886	c.769G>A	c.(769-771)Gga>Aga	p.G257R	COL28A1_uc011jxe.1_5'UTR|COL28A1_uc003srd.3_5'Flank	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	257	Collagen-like 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTGGATTTCCATGTGTACCC	0.333000														9			13		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782832	80782832	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:80782832G>A	uc010ysh.2	+	10	1560	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	CTNNA2_uc010yse.2_Missense_Mutation_p.E519K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E519K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E519K|CTNNA2_uc010ysi.2_Missense_Mutation_p.E151K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	519					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E519E(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCACATCTTGGAGGATGTGAA	0.473000														31			10		0	0	1	0	0
CAMKMT	79823	broad.mit.edu	37	2	44600005	44600005	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:44600005C>G	uc002rum.2	+	1	393	c.289C>G	c.(289-291)Cct>Gct	p.P97A	CAMKMT_uc002rul.2_Missense_Mutation_p.P97A	NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	Homo sapiens calmodulin-lysine N-methyltransferase (CAMKMT), mRNA.	97						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						CATCTTCTGTCCTGAATACAG	0.333000														17			8		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113407510	113407510	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:113407510C>T	uc001tug.3	+	14	3289	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	1068	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CACATCTGCCCTGTGCTGCAT	0.612000														12			4		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018303	161018303	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:161018303C>T	uc001fxl.3	-	11	2854	c.2508G>A	c.(2506-2508)aaG>aaA	p.K836K	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Silent_p.K682K|ARHGAP30_uc009wtx.3_Silent_p.K509K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	836	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTCCCGTTCCTTGCTGACCT	0.562000														72			24		0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151015541	151015542	+	Nonsense_Mutation	DNP	CC	TT	TT	rs141131792		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:151015541_151015542CC>TT	uc001ewl.2	+	4	716_717	c.543_544CC>TT	c.(541-546)ttccga>ttTTga	p.R182*	BNIPL_uc009wmi.2_Nonsense_Mutation_p.R100*|BNIPL_uc009wmj.2_Non-coding_Transcript	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	182					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	p.R182*(1)|p.R100*(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGGGTGTTCCGAATGGGACC	0.545000														26			7		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934658	30934658	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:30934658C>T	uc002nsu.1	+	1	327	c.189C>T	c.(187-189)tcC>tcT	p.S63S	ZNF536_uc010edd.1_Silent_p.S63S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A62fs*11(1)|p.A62T(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCCGCATCCCTGGAGGAGA	0.672000														42			15		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52961444	52961444	+	Splice_Site	SNP	G	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:52961444G>T	uc001sap.1	-	8	1438	c.1390_splice	c.e8+1	p.S464_splice		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	464	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		AATACTCACAGATGCTCACAG	0.463000														14			5		1	1	1	1	0
XDH	7498	broad.mit.edu	37	2	31620565	31620565	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:31620565G>A	uc002rnv.1	-	5	543	c.464C>T	c.(463-465)cCc>cTc	p.P155L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	155					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTGGAGGATGGGTCTGTAGCC	0.547000														74			36		0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003441	50003441	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:50003441C>T	uc010ria.2	-	0	631	c.597G>A	c.(595-597)gtG>gtA	p.V199V		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACCCACTGTTCACAGCAACAA	0.413000														47			13		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114177656	114177656	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:114177656C>T	uc001kzu.3	+	13	1551	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	ACSL5_uc001kzs.3_Missense_Mutation_p.S424F|ACSL5_uc001kzt.3_Missense_Mutation_p.S424F|ACSL5_uc009xxz.3_Missense_Mutation_p.S424F|ACSL5_uc010qrj.2_Missense_Mutation_p.S206F	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	424					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GCCCCCATGTCCACTTCAGTC	0.473000														19			18		0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457289	25457290	+	Splice_Site	DNP	CC	TT	TT			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:25457289_25457290CC>TT	uc002rgc.3	-	23	2855	c.2598_splice	c.e23-1	p.R866_splice	DNMT3A_uc002rgd.3_Splice_Site_p.R866_splice|DNMT3A_uc010eyi.3_Splice_Site|DNMT3A_uc002rgb.3_Splice_Site_p.R677_splice	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	866					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAAATACCCTGGGGGAGAA	0.629000			"""Mis, F, N, S"""		AML									19			9		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115958993	115958993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:115958993C>T	uc001lbg.1	+	3	599	c.446C>T	c.(445-447)tCc>tTc	p.S149F	TDRD1_uc001lbf.3_Missense_Mutation_p.S140F|TDRD1_uc001lbh.1_Missense_Mutation_p.S140F|TDRD1_uc001lbi.1_Missense_Mutation_p.S140F	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	149					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTCGAGAATTCCTTGTCCATA	0.408000														29			14		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698557	43698557	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:43698557G>T	uc002ovy.3	-	4	1280	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Missense_Mutation_p.A300D|PSG4_uc002owb.3_Missense_Mutation_p.A300D	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	393	Ig-like C2-type 3.				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)				AACAGAGCAAGCATAGAGCCC	0.458000														114			47		1.06522e-23	1.08611e-23	1	1	0
WDR74	54663	broad.mit.edu	37	11	62606644	62606644	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:62606644C>T	uc001nvm.2	-	3	403	c.235G>A	c.(235-237)Ggt>Agt	p.G79S	WDR74_uc001nvl.2_Missense_Mutation_p.G79S|WDR74_uc009yoi.2_Missense_Mutation_p.G79S|WDR74_uc010rmk.2_Missense_Mutation_p.G79S	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	79						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TGTCTCTGACCCTGGAATATG	0.642000														37			8		0	0	1	0	0
C3orf23	285343	broad.mit.edu	37	3	44437968	44437968	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:44437968G>A	uc003cnd.4	+	6	1199	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	C3orf23_uc010him.3_Missense_Mutation_p.E258K|C3orf23_uc003cne.4_Missense_Mutation_p.E114K	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	258						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GCAGAATTTGGAAACACTTAA	0.408000														11			7		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15839037	15839037	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:15839037G>C	uc002ddx.3	-	20	2597	c.2490C>G	c.(2488-2490)tgC>tgG	p.C830W	MYH11_uc002ddv.3_Missense_Mutation_p.C830W|MYH11_uc002ddw.3_Missense_Mutation_p.C823W|MYH11_uc002ddy.3_Missense_Mutation_p.C823W|MYH11_uc010bvg.3_Missense_Mutation_p.C655W	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	823					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGTAGGCGGCGCAGTTCCTCT	0.627000			T	CBFB	AML									50			25		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171248010	171248010	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:171248010G>A	uc009wvz.3	+	5	763	c.627_splice	c.e5+1	p.K209_splice	FMO1_uc010pme.2_Splice_Site_p.K146_splice|FMO1_uc001ghl.3_Splice_Site_p.K209_splice|FMO1_uc001ghm.3_Splice_Site_p.K209_splice	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	209					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCGGAAAAGGTACATTCCT	0.413000														14			5		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56615411	56615411	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:56615411G>A	uc010xeg.2	+	5	3015	c.2818G>A	c.(2818-2820)Gac>Aac	p.D940N	ZNF532_uc002lhp.3_Missense_Mutation_p.D938N|ZNF532_uc002lho.3_Missense_Mutation_p.D940N|ZNF532_uc002lhr.3_Missense_Mutation_p.D938N|ZNF532_uc002lhs.3_Missense_Mutation_p.D938N|ZNF532_uc010xeh.2_Missense_Mutation_p.D32N	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAGTGTCCAGACTGTTCTCT	0.418000														38			14		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122345835	122345835	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:122345835C>T	uc003efm.2	+	8	1459	c.1393C>T	c.(1393-1395)Ctc>Ttc	p.L465F	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Missense_Mutation_p.L212F|PARP15_uc003efp.1_Missense_Mutation_p.L231F|PARP15_uc011bjt.1_Intron	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	443	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.L231F(1)|p.L465F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAAAAGAGACCTCTCTGCATC	0.368000														30			6		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126068459	126068459	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:126068459C>T	uc001uhe.1	+	4	1349	c.1341C>T	c.(1339-1341)gtC>gtT	p.V447V	TMEM132B_uc021rgl.1_Silent_p.V337V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	447						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGTCAAAGTCGTGGGGGTCC	0.498000														111			48		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111769591	111769591	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:111769591C>T	uc010hqb.2	+	6	956	c.786C>T	c.(784-786)agC>agT	p.S262S	TMPRSS7_uc011bhr.1_Silent_p.S117S	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	388	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTACCCGAGCTACTATCCTC	0.388000														87			28		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10250743	10250743	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:10250743G>A	uc002mng.3	-	31	3917	c.3737C>T	c.(3736-3738)tCt>tTt	p.S1246F	DNMT1_uc002mnf.3_Missense_Mutation_p.S170F|DNMT1_uc010xlc.2_Missense_Mutation_p.S1262F|DNMT1_uc002mnh.3_Missense_Mutation_p.S1141F|DNMT1_uc010xld.2_Missense_Mutation_p.S1246F	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1246	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AACCACCAGAGAGTTTTTGAA	0.607000														45			7		0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121176173	121176173	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:121176173G>A	uc001tza.4	+	5	833	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	ACADS_uc010szl.1_Missense_Mutation_p.A235T	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	239						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTCATCCACGGCCAACCTCAT	0.612000														38			15		0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113905968	113905968	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:113905968C>T	uc001tvj.1	-	2	1213	c.639G>A	c.(637-639)ctG>ctA	p.L213L		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	213						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TCTCCTGCGCCAGCTGCTCGC	0.731000														19			7		0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466647	51466647	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:51466647G>A	uc002puh.3	-	2	448	c.383C>T	c.(382-384)tCt>tTt	p.S128F	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.S119F|KLK6_uc002puj.3_Missense_Mutation_p.S12F|KLK6_uc010ycn.2_Missense_Mutation_p.S12F|KLK6_uc002pul.3_Missense_Mutation_p.S119F|KLK6_uc002pum.3_Missense_Mutation_p.S12F	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	119	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GATGAGTTCAGAGAGTTTGGC	0.602000														25			4		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397974	57397974	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:57397974G>A	uc001sml.2	-	1	881	c.728C>T	c.(727-729)tCc>tTc	p.S243F	ZBTB39_uc021qzg.1_Missense_Mutation_p.S243F	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGCTGGCAGGAGCTCGTGCT	0.532000														33			8		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123514580	123514580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:123514580C>T	uc010nqy.3	-	31	8069	c.8005G>A	c.(8005-8007)Gaa>Aaa	p.E2669K	ODZ1_uc011muj.2_Missense_Mutation_p.E2668K|ODZ1_uc004euj.3_Missense_Mutation_p.E2662K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2662					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						CTTCTTTGTTCCTTAGTCCAG	0.547000														13			31		0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97216838	97216838	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:97216838G>A	uc002swe.3	+	6	673	c.573G>A	c.(571-573)atG>atA	p.M191I	ARID5A_uc010yuq.2_Missense_Mutation_p.M139I|ARID5A_uc002swf.3_Missense_Mutation_p.M27I|ARID5A_uc002swg.3_Missense_Mutation_p.M139I	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	191					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CATTCCAGATGATGCCAGGAA	0.612000														43			21		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950487	68950487	+	Missense_Mutation	SNP	C	T	T	rs138740482		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:68950487C>T	uc003xxv.1	+	6	826	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	PREX2_uc003xxu.1_Missense_Mutation_p.L267F|PREX2_uc011lez.1_Missense_Mutation_p.L202F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	267	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.L267F(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTGTTTTTTCTTTTCGATAA	0.408000														27			22		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:88669548G>A	uc002bme.2	-	12	1656	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_uc002bmh.2_Silent_p.F442F|NTRK3_uc002bmf.2_Silent_p.F450F|NTRK3_uc021sua.1_Silent_p.F442F|NTRK3_uc010upl.1_Silent_p.F352F|NTRK3_uc010bnh.1_Silent_p.F442F|NTRK3_uc002bmg.3_Silent_p.F450F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	450					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCATGACGAAGAGAACCA	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				15			5		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180030280	180030280	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:180030280C>T	uc003mlz.4	-	29	4083	c.4004G>A	c.(4003-4005)aGc>aAc	p.S1335N		NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	0					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCCATACTCGCTGTTGTAAAA	0.642000														19			8		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397656	397656	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:397656G>A	uc021qbk.1	+	4	1136	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	PKP3_uc001lpc.3_Silent_p.K354K	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	354					cell adhesion	desmosome|nucleus	binding	p.L369L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCGCCAAGAAGCAGGTGA	0.637000														25			11		0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38379617	38379617	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:38379617G>A	uc003aun.1	-	1	453	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Nonsense_Mutation_p.Q59*|SOX10_uc010gxj.3_Nonsense_Mutation_p.Q59*|AK098727_uc003aup.3_5'Flank	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	59						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TCGCCGTCCTGCTGCTCCTTC	0.731000														14			5		0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61238932	61238933	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:61238932_61238933CC>AT	uc010fci.3	-	1	153_154	c.93_94GG>AT	c.(91-96)gtggat>gtATat	p.D32Y	PUS10_uc002sao.3_Missense_Mutation_p.D32Y|PUS10_uc010ypk.2_5'UTR|PUS10_uc002sap.1_Non-coding_Transcript|PUS10_uc002saq.1_Non-coding_Transcript	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	32					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GCATGAAAATCCACACCACAGA	0.347000														10			5		0	0	1	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647229	79647229	+	RNA	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:79647229G>A	uc010jaj.1	-	0		c.557C>T								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		GTTCCATTGGGTCTGGATAAG	0.468000														46			16		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419639	10419639	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10419639G>A	uc002gmo.3	-	3	319	c.225C>T	c.(223-225)gaC>gaT	p.D75D	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	75	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGAAGACTTGGTCATCTTTCA	0.463000														89			34		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22068653	22068653	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:22068653C>A	uc001rfh.3	-	4	785	c.765G>T	c.(763-765)atG>atT	p.M255I	ABCC9_uc001rfi.1_Missense_Mutation_p.M255I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	255					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTACTGCTCTCATTGCTATTG	0.378000														32			18		2.48551e-13	2.53011e-13	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139791802	139791802	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:139791802C>T	uc003yvd.3	-	13	2101	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	552	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCTGGCTCCCCCTGAACA	0.622000										HNSCC(7;0.00092)				77			27		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324366	7324366	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:7324366C>T	uc001mfe.3	+	1	479	c.242C>T	c.(241-243)cCg>cTg	p.P81L	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	81						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGCTGGGTTCCGTGGCGAGAA	0.547000														55			17		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925445	27925445	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:27925445C>T	uc011dkx.2	+	0	427	c.427C>T	c.(427-429)Cag>Tag	p.Q143*		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCTGCCTCCAGTTGGCAGC	0.483000														80			19		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888361	38888361	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:38888361C>T	uc021wvy.1	-	25	5399	c.5200G>A	c.(5200-5202)Gaa>Aaa	p.E1734K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1734					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCACCTCTTTCCTCTTCCTTT	0.438000														94			36		0	0	1	0	0
LOC647264	0	broad.mit.edu	37	13	64321195	64321195	+	RNA	SNP	T	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:64321195T>A	uc010thk.1	+	0		c.236T>A								Homo sapiens hypothetical LOC647264, mRNA (cDNA clone MGC:189721 IMAGE:9057045), complete cds.																		tggctgtggctatggaactgg	0.572000														51			14		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289573	160289573	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:160289573G>A	uc002uao.3	-	8	2000	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	BAZ2B_uc002uap.3_Missense_Mutation_p.S530F|BAZ2B_uc002uas.1_Missense_Mutation_p.S469F|BAZ2B_uc002uaq.1_Missense_Mutation_p.S460F|BAZ2B_uc002uar.1_Missense_Mutation_p.S105F	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TACAGGTGAGGAAAAAGGGGT	0.453000														79			24		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908542	164908542	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:164908542C>T	uc003fej.4	-	1	521	c.77G>A	c.(76-78)gGa>gAa	p.G26E	SLITRK3_uc003fek.3_Missense_Mutation_p.G26E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G26E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	26						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						GGTAGTCCATCCTAGAGCAAT	0.418000										HNSCC(40;0.11)				21			5		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82122220	82122220	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:82122220G>A	uc001kca.1	+	2	401	c.21G>A	c.(19-21)aaG>aaA	p.K7K	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Silent_p.K7K	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	7							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			ACTACCTGAAGAGGTGCTTTG	0.433000														19			11		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216019166	216019166	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:216019166C>T	uc001hku.1	-	45	9442	c.9055_splice	c.e45+1	p.E3019_splice		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3019					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGACTCACCCCCATCGCAA	0.438000										HNSCC(13;0.011)				17			5		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487739	248487739	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248487739G>A	uc010pzk.2	-	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I44L(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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;0.0265)			GGAGAACCATGATGGAGTTTC	0.532000														122			42		0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	534807	534807	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:534807G>A	uc010cjo.2	-	7	817	c.670C>T	c.(670-672)Cct>Tct	p.P224S	VPS53_uc002frk.3_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.P195S|VPS53_uc002frn.2_Missense_Mutation_p.P224S|VPS53_uc002fro.2_Missense_Mutation_p.P26S|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	224					protein transport	Golgi apparatus|endosome membrane		p.K224T(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CCCTGGGAAGGAAACGCTTCT	0.498000														39			14		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39502899	39502899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:39502899G>A	uc003xni.3	+	10	1007	c.952G>A	c.(952-954)Gct>Act	p.A318T	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.A294T	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	318	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)			GGTTATTATAGCTCAACTGCT	0.328000														20			13		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621205	41621205	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:41621205G>A	uc003gvz.4	+	6	623	c.206_splice	c.e6-1	p.G69_splice	LIMCH1_uc003gvt.1_Splice_Site_p.G69_splice|LIMCH1_uc003gwe.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvu.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvv.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvw.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvx.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvy.4_Splice_Site_p.G69_splice|LIMCH1_uc003gwa.4_Splice_Site_p.G69_splice|LIMCH1_uc011byu.2_Splice_Site_p.G74_splice|LIMCH1_uc003gwc.4_Splice_Site_p.G74_splice|LIMCH1_uc003gwd.4_Splice_Site_p.G74_splice|LIMCH1_uc011byv.2_Splice_Site|LIMCH1_uc003gwb.1_Splice_Site_p.G76_splice	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	228	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCTTCCCTAGGGAGAGGAAGC	0.507000														159			65		0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	735959	735959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:735959C>T	uc002ciz.1	-	4	2243	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	625										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTCTCACTGCCCAACCCTGGG	0.657000														53			13		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617140	111617140	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:111617140C>T	uc004bdi.3	-	0	1136	c.1071G>A	c.(1069-1071)agG>agA	p.R357R		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	357						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCTCAGCTCCCTCTGGAAGC	0.677000														26			23		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89891673	89891674	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:89891673_89891674CC>TT	uc003pna.2	-	7	1354_1355	c.899_900GG>AA	c.(898-900)tgg>tAA	p.W300*	GABRR1_uc011dzv.1_Nonsense_Mutation_p.W277*	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	300					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGAAGGACACCCAGGACAGCAT	0.485000														20			16		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191844	5191844	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:5191844G>A	uc003jdl.3	+	7	1392	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	ADAMTS16_uc003jdk.1_Silent_p.T418T|ADAMTS16_uc003jdj.1_Silent_p.T418T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	418	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T418M(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAGCTGCACGATTAATGAAG	0.433000														42			15		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947433	145947433	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:145947433G>A	uc003zdv.4	-	4	1868	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P538P(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGGGAATCTGTCCA	0.483000														80			48		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241682374	241682374	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:241682374G>A	uc010fzk.3	-	33	3859	c.3612C>T	c.(3610-3612)ttC>ttT	p.F1204F	KIF1A_uc002vzy.3_Silent_p.F1103F|KIF1A_uc002vzz.2_Silent_p.F1204F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1103					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGACCCGAGGGAAGTGGCGGC	0.657000														19			4		0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133374286	133374286	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:133374286C>T	uc003eps.3	-	5	722	c.590G>A	c.(589-591)tGt>tAt	p.C197Y		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	197	BRCT 2.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAAAATAGGACACTTGAAATC	0.333000								Other conserved DNA damage response genes						13			5		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44581017	44581017	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:44581017G>A	uc002xqw.3	-	19	3081	c.2958C>T	c.(2956-2958)tcC>tcT	p.S986S	ZNF335_uc002xqv.3_Silent_p.S98S|ZNF335_uc010zxk.2_Silent_p.S831S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	986					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CAGAGCTCTGGGAGTCCCCTA	0.642000														30			9		0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983955	223983955	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:223983955C>T	uc001hod.3	-	13	2710	c.1899G>A	c.(1897-1899)agG>agA	p.R633R	TP53BP2_uc010pvb.2_Silent_p.R762R|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Silent_p.R401R	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	756					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding	p.R633R(2)|p.R762R(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTATGGTGGTCCTCTGATATA	0.473000														59			19		0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99118704	99118704	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:99118704G>A	uc001vnm.1	-	5	980	c.745C>T	c.(745-747)Ccg>Tcg	p.P249S	STK24_uc001vnn.1_Missense_Mutation_p.P237S|STK24_uc010tim.1_Missense_Mutation_p.P218S	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	249	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCAACGTCGGTGGGTTGTTC	0.488000														17			11		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981729	7981729	+	Missense_Mutation	SNP	G	A	A	rs77351963		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:7981729G>A	uc001mfv.1	-	1	1447	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	477	NACHT.						ATP binding	p.S477C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCAGGTAAGACATGGCATG	0.517000														47			22		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29221041	29221041	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:29221041G>A	uc010ezl.3	+	2	412	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	FAM179A_uc010ymm.2_Missense_Mutation_p.G21R	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	21							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTGTACTGCGGGAGCATCCC	0.622000														10			5		0	0	1	0	0
RANBP1	5902	broad.mit.edu	37	22	20109898	20109898	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:20109898C>T	uc002zro.1	+	2	413	c.264C>T	c.(262-264)ctC>ctT	p.L88L	RANBP1_uc011ahl.1_Silent_p.L88L|RANBP1_uc002zrp.3_Silent_p.L88L|RANBP1_uc021wlq.1_Non-coding_Transcript	NM_002882	NP_002873	P43487	RANG_HUMAN	Homo sapiens RAN binding protein 1 (RANBP1), mRNA.	88	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding	p.K81fs*27(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					CCATCCGCCTCCTCATGCGGA	0.577000														25			4		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457856	110457856	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:110457856G>A	uc003yne.3	+	37	5862	c.5758G>A	c.(5758-5760)Gga>Aga	p.G1920R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1920	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L1920F(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTCTCAGAGGAATTATCCC	0.338000										HNSCC(38;0.096)				11			7		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398410	10398410	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10398410C>T	uc002gmo.3	-	36	5398	c.5304G>A	c.(5302-5304)atG>atA	p.M1768I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1768						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.M1768T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTCAGCCATCATGGCAGCCT	0.488000														95			28		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22680666	22680666	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:22680666C>T	uc001iri.3	+	7	1181	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	SPAG6_uc010qct.2_Silent_p.P313P|SPAG6_uc009xkh.3_Silent_p.P316P|SPAG6_uc001irj.3_Silent_p.P338P|SPAG6_uc021poe.1_Silent_p.P64P	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	338					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGGGTGTACCCCAGTTGTCAG	0.468000														14			7		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46615714	46615714	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:46615714C>T	uc003bhb.1	+	4	637	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	PPARA_uc003bgw.1_Missense_Mutation_p.R172C|PPARA_uc003bgx.1_Missense_Mutation_p.R172C|PPARA_uc010hab.1_Missense_Mutation_p.R172C|PPARA_uc003bha.3_Missense_Mutation_p.R172C|PPARA_uc010hac.1_Intron	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	172					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	p.R172C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCTAGCGATTCGTTTTGGACG	0.493000														36			15		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128342434	128342434	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:128342434G>A	uc002top.3	+	13	1689	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	546	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAACATCCACGATGCCAGATT	0.547000														73			21		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541573	10541573	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10541573G>A	uc002gmq.2	-	26	3604	c.3516C>T	c.(3514-3516)ttC>ttT	p.F1172F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1172					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCAGCTTCAGGAACTCCGCCT	0.652000														39			19		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021865	120021866	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:120021865_120021866CC>TT	uc003ksq.3	+	1	539_540	c.376_377CC>TT	c.(376-378)cct>TTt	p.P126F	PRR16_uc003ksp.3_Missense_Mutation_p.P103F|PRR16_uc003ksr.3_Missense_Mutation_p.P56F	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	126	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCACCACCTCCTCCAAGGTTG	0.510000														57			15		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319269	19319269	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:19319269G>A	uc010vyw.2	+	13	1908	c.1677G>A	c.(1675-1677)atG>atA	p.M559I	RNF112_uc021tsa.1_Non-coding_Transcript	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	559							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCGGGCTCATGGGCCTGGCAG	0.697000														10			4		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18054916	18054916	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:18054916C>T	uc001mnp.2	-	2	333	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	103					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GGAACAGTTTCCATACCTGTA	0.318000														55			21		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228115911	228115911	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:228115911G>A	uc002vom.2	+	9	764	c.602G>A	c.(601-603)gGa>gAa	p.G201E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	201	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTCCTCCGGGATTCTTTGTG	0.383000														36			16		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90458668	90458668	+	RNA	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:90458668C>T	uc010yts.2	+	42		c.5858C>T								Parts of antibodies, mostly variable regions.																		GACAGTACCCCTCCCACAGCG	0.512000														263			11		0	0	1	0	0
KLK10	5655	broad.mit.edu	37	19	51518141	51518141	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:51518141G>A	uc002pva.3	-	5	866	c.746C>T	c.(745-747)cCc>cTc	p.P249L	KLK10_uc002puy.3_Missense_Mutation_p.P249L|KLK10_uc002puz.3_Missense_Mutation_p.P249L	NM_001077500	NP_665895	O43240	KLK10_HUMAN	Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA.	249	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		AGAGCCACAGGGGTAAACACC	0.537000														26			5		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444719	49444719	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:49444719G>A	uc001rta.4	-	9	2747	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	916	Pro-rich.			Missing (in Ref. 1; AAC51734).	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						TGGGGACAACGGCAGCTCCTC	0.577000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				56			15		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215656	130215656	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:130215656C>T	uc004evz.3	+	1	362	c.17C>T	c.(16-18)cCt>cTt	p.P6L	ARHGAP36_uc004ewa.3_Intron|ARHGAP36_uc004ewb.3_Intron|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	6					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGCTGCATTCCTTTTCTGAAG	0.527000														17			19		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124219678	124219678	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:124219678C>T	uc003ypv.3	+	4	3069	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Missense_Mutation_p.S352F|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	352	Ser-rich.							p.A351V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGTCCGCGTCTTCAGGGCCC	0.726000														30			4		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749683	80749683	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:80749683A>C	uc001szd.3	+	45	5740	c.5734A>C	c.(5734-5736)Atg>Ctg	p.M1912L	OTOGL_uc021rba.1_5'Flank|OTOGL_uc009zsg.2_5'Flank	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAAGTTGTCATGGGCATCAT	0.398000														85			31		0	0	1	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334609	142334609	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:142334609G>A	uc003vzp.2	+	2	87	c.32_splice	c.e2-1	p.G11_splice	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Missense_Mutation_p.G12S|TCRBV2S1_uc022anq.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGTCTCAGCAGGCTCCGGGCT	0.597000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			21		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157239	12157239	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:12157239C>T	uc001atq.3	+	2	455	c.233C>T	c.(232-234)gCc>gTc	p.A78V	TNFRSF8_uc010obc.2_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	78					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.A78S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGATGAGGCCGACCGCTGT	0.582000														35			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412630	126412630	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:126412630G>A	uc003ifj.4	+	16	14653	c.14653G>A	c.(14653-14655)Gga>Aga	p.G4885R	FAT4_uc011cgp.2_Missense_Mutation_p.G3126R|FAT4_uc003ifi.1_Missense_Mutation_p.G2362R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4885					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G4884D(1)		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						AGATAATTATGGAGCCAGACT	0.507000														31			6		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885168	29885168	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:29885168G>A	uc003afo.3	+	3	1610	c.1539G>A	c.(1537-1539)gaG>gaA	p.E513E	KIAA0845_uc003afp.3_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	513	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CATCCCCAGAGAAGGAAGCCA	0.562000														26			11		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47218680	47218680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:47218680G>A	uc002ion.2	+	1	325	c.266G>A	c.(265-267)gGa>gAa	p.G89E	B4GALNT2_uc010wlt.1_Missense_Mutation_p.G3E|B4GALNT2_uc010wlu.1_Missense_Mutation_p.G29E	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	89					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTATGTTCGGAAGCATGTTC	0.493000														72			25		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13229038	13229038	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:13229038G>A	uc001rbi.3	+	10	1626	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	535						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CATCCTTCTGGATCTGGCCAA	0.562000														26			14		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23914670	23914670	+	Silent	SNP	G	A	A	rs143287019	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:23914670G>A	uc001uon.2	-	9	3934	c.3345C>T	c.(3343-3345)gtC>gtT	p.V1115V	SACS_uc001uoo.2_Silent_p.V968V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1115					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GACAAGCACCGACCTGTAAGG	0.378000														78			31		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106810978	106810978	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:106810978G>A	uc003ymd.3	+	6	789	c.766G>A	c.(766-768)Ggc>Agc	p.G256S	ZFPM2_uc011lhs.2_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	256					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.G256C(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAAGTCCTGTGGCATCTGGTA	0.473000														23			20		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023697	167023697	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:167023697C>T	uc011bpc.2	-	16	1796	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	ZBBX_uc003feq.3_Missense_Mutation_p.D458N|ZBBX_uc003fep.3_Missense_Mutation_p.D487N	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	487						intracellular	zinc ion binding	p.P486L(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAATACACATCAGGATCCACG	0.289000														11			6		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897049	175897049	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:175897049G>A	uc003iuc.3	+	4	1043	c.373G>A	c.(373-375)Gga>Aga	p.G125R	ADAM29_uc003iud.3_Missense_Mutation_p.G125R|ADAM29_uc010irr.3_Missense_Mutation_p.G125R|ADAM29_uc011cki.2_Missense_Mutation_p.G125R|ADAM29_uc021xuo.1_Missense_Mutation_p.G125R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	125					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGGTTTTCAAGGAATATTACA	0.428000														41			8		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034423	79034423	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:79034423G>A	uc003kgc.3	+	1	9907	c.9835G>A	c.(9835-9837)Gaa>Aaa	p.E3279K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3279						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)		GATAGCTGCAGAAGGGGAAAT	0.448000														57			9		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639374	3639374	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:3639374G>A	uc002cvp.2	-	11	4892	c.4265C>T	c.(4264-4266)cCa>cTa	p.P1422L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1422	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTCGTCAATTGGAATTGGGGG	0.632000								Direct reversal of damage						100			46		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743954	31743954	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:31743954G>A	uc011dog.2	-	2	538	c.300C>T	c.(298-300)ttC>ttT	p.F100F	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	100						extracellular region											AGGCTGCTCGGAACCGCCGAG	0.602000														60			17		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49186320	49186320	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:49186320G>C	uc001ngy.3	-	12	1638	c.1377C>G	c.(1375-1377)aaC>aaG	p.N459K	FOLH1_uc009yly.3_Missense_Mutation_p.N444K|FOLH1_uc009ylz.3_Missense_Mutation_p.N444K|FOLH1_uc001ngz.3_Missense_Mutation_p.N459K|FOLH1_uc009yma.3_Missense_Mutation_p.N151K	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	459	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCAGAGTGTAGTTTCCTGAAA	0.294000														18			3		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661123	90661123	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:90661123G>A	uc011eab.2	-	6	1576	c.702C>T	c.(700-702)taC>taT	p.Y234Y	BACH2_uc003pnw.3_Silent_p.Y234Y|BACH2_uc010kch.3_Silent_p.Y234Y	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	234						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATGCAAGCTGGTATTTCTTGT	0.498000														33			17		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41546095	41546095	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:41546095C>T	uc003xok.3	-	33	4201	c.4117G>A	c.(4117-4119)Gaa>Aaa	p.E1373K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E689K|ANK1_uc003xoi.3_Missense_Mutation_p.E1373K|ANK1_uc003xoj.3_Missense_Mutation_p.E1373K|ANK1_uc003xol.3_Missense_Mutation_p.E1373K|ANK1_uc003xom.3_Missense_Mutation_p.E1414K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1373					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCTATCTTCGGCTCCACTT	0.567000														11			18		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540093	169540093	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:169540093C>T	uc003fgb.3	+	0	384	c.384C>T	c.(382-384)acC>acT	p.T128T		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	128										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTACCAGACCGACCTGAAGG	0.567000														47			14		0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2283125	2283125	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:2283125C>T	uc002cpm.3	+	6	1045	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	E4F1_uc010bsi.3_Missense_Mutation_p.H333Y|E4F1_uc010bsj.3_Missense_Mutation_p.H333Y	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	333					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CACCGTCATCCACGAAGTCCA	0.637000														91			33		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	37903743	37903743	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:37903743G>A	uc003gtb.3	+	1	385	c.27G>A	c.(25-27)agG>agA	p.R9R	TBC1D1_uc011byd.2_Silent_p.R9R|TBC1D1_uc010ifd.3_Silent_p.R9R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	9						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCACAGCAAGGAAACATCTGC	0.493000														69			20		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26177195	26177195	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:26177195G>A	uc002rgu.2	-	3	2487	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.I610I	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	610					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCACGCGGATATACTCAT	0.632000														24			14		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964963	42964963	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:42964963C>T	uc003gwt.3	+	1	440	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	147	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.R147L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CACCTGCCTTCGTGTGGTCCG	0.388000														71			38		0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113636	66113636	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:66113636C>T	uc001ohr.3	-	1	1277	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA.	378					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TTCAACGCTTCTTTGAAGCCC	0.488000														50			24		0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098891	82098891	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:82098891C>T	uc001kby.1	-	5	526	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	DYDC1_uc001kbx.3_Missense_Mutation_p.E121K|DYDC1_uc009xsr.1_Missense_Mutation_p.E121K			Q8WWB3	DYDC1_HUMAN	Homo sapiens DPY30 domain containing 1 (DYDC1), mRNA.	121										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			ACTAGATTTTCCATATTCATT	0.254000														6			3		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98974789	98974789	+	RNA	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:98974789C>T	uc011mrd.1	-	7		c.1554G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		TTCATGTTGTCCACCTGCTCT	0.493000														9			12		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127688	93127688	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:93127688G>A	uc001pdq.3	+	9	1205	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	CCDC67_uc001pdo.1_Missense_Mutation_p.E369K|CCDC67_uc001pdp.3_Missense_Mutation_p.E369K	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	369										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AATGAGGAATGAAATCTCTGA	0.398000														6			3		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8138131	8138131	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:8138131G>A	uc002mjf.3	-	60	7770	c.7753C>T	c.(7753-7755)Cgc>Tgc	p.R2585C	FBN3_uc002mje.3_Missense_Mutation_p.R381C	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2585	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAGTGTTGCGACAGGAGGCG	0.662000														34			13		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28609499	28609499	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:28609499G>A	uc002kwj.4	-	3	605	c.450C>T	c.(448-450)ggC>ggT	p.G150G	DSC3_uc002kwi.4_Silent_p.G150G	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	150	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGGGAAAGGGCCCAAGGAAT	0.418000														14			12		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345707	92345707	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:92345707C>T	uc010tif.2	+	2	958	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	198						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R198R(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCGGATGGCTCGCCGGGATGT	0.502000														45			17		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	A	A	rs115882083	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:4869718G>A	uc010qyo.2	-	0	721	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000														27			15		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145843314	145843314	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:145843314C>T	uc003lob.3	+	4	1133	c.1093C>T	c.(1093-1095)Ccg>Tcg	p.P365S	TCERG1_uc003loc.3_Missense_Mutation_p.P365S|TCERG1_uc011dbt.2_Missense_Mutation_p.P365S	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	365	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGGTACCTCCGTTTCGTGT	0.473000														64			24		0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110310775	110310775	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:110310775G>A	uc002tey.3	-	8	1429	c.1050C>T	c.(1048-1050)gcC>gcT	p.A350A	SEPT10_uc010ywu.1_Silent_p.A183A|SEPT10_uc002tew.3_Silent_p.A350A|SEPT10_uc002tex.3_Silent_p.A327A|SEPT10_uc010ywv.2_Silent_p.A216A|SEPT10_uc002tev.1_Silent_p.A157A|SEPT10_uc010fjo.3_Intron	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	350					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CATGTCTTTTGGCTTCATAGG	0.418000														45			16		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427974	10427974	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10427974G>A	uc010coi.3	-	34	5112	c.4984C>T	c.(4984-4986)Cac>Tac	p.H1662Y	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.H1662Y|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1662					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCATCCAGGTGGATCTGGGTA	0.552000														37			12		0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092725	39092725	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:39092725G>A	uc002hvm.1	-	1	720	c.131C>T	c.(130-132)tCc>tTc	p.S44F	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.S44F|KRT23_uc002hvn.1_Missense_Mutation_p.S44F	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	44	Head.					intermediate filament	structural molecule activity	p.S44F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GAAGGACAGGGAGATGCGGGC	0.701000														67			16		0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	68020265	68020265	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:68020265G>A	uc002aqu.3	+	16	1709	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G	MAP2K5_uc002aqv.3_Intron|MAP2K5_uc010ujw.2_Silent_p.G316G|MAP2K5_uc002aqx.3_Silent_p.G162G	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	352	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTGCTCTTGGGAGGTTTCCAT	0.403000														83			30		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682687	100682687	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:100682687G>T	uc003uxp.1	+	2	8043	c.7990G>T	c.(7990-7992)Gtg>Ttg	p.V2664L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2664	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGGACACTTGTGACCACTTC	0.463000														196			46		3.7052e-28	3.78404e-28	1	1	0
KPRP	448834	broad.mit.edu	37	1	152732733	152732733	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152732733C>T	uc001fal.1	+	1	727	c.669C>T	c.(667-669)tcC>tcT	p.S223S	KPRP_uc021ozf.1_Silent_p.S223S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	223						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)			AGTATCGGTCCCGGACTTCAT	0.582000														47			20		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166132	19166132	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:19166132G>A	uc001bba.1	-	5	2482	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	827					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCATGCTGTTGAAGTAGGCGG	0.622000														19			7		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657103	81657103	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:81657103C>T	uc001szo.2	-	30	3780	c.3619G>A	c.(3619-3621)Gga>Aga	p.G1207R	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G1106R|PPFIA2_uc021rbh.1_Missense_Mutation_p.G1102R|PPFIA2_uc021rbi.1_Missense_Mutation_p.G1201R|PPFIA2_uc021rbj.1_Missense_Mutation_p.G1186R|PPFIA2_uc021rbk.1_Missense_Mutation_p.G1192R|PPFIA2_uc021rbl.1_Missense_Mutation_p.G1207R|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G743R|PPFIA2_uc021rbf.1_Missense_Mutation_p.G393R	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1107										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGCTGATTCCATGTACTTCA	0.443000														12			8		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91430287	91430287	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:91430287G>A	uc002bpv.3	+	4	603	c.484_splice	c.e4+1	p.D162_splice	FES_uc010uqj.2_Splice_Site_p.D104_splice|FES_uc010uqk.2_Splice_Site_p.D144_splice|FES_uc002bpx.3_Splice_Site_p.D162_splice|FES_uc002bpy.3_Splice_Site_p.D104_splice|FES_uc010bny.3_Splice_Site_p.D104_splice	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	162	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCCAGCAAAGGTTCGTGGCT	0.617000														25			15		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583661	24583661	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:24583661A>C	uc002zzn.1	+	11	2058	c.2014A>C	c.(2014-2016)Aac>Cac	p.N672H		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	672					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GACCACCCTCAACCCCAGCCT	0.592000														34			22		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106586331	106586331	+	RNA	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:106586331C>T	uc021ser.1	-	1811		c.33965G>A			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGTGCATGTCGTAGCTACTG	0.587000														40			22		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457371	110457371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:110457371C>T	uc003yne.3	+	37	5377	c.5273C>T	c.(5272-5274)tCt>tTt	p.S1758F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1758	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1760Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCCCAAACTCTGTCATAGGA	0.418000										HNSCC(38;0.096)				48			43		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057169	40057169	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:40057169C>T	uc003ayc.3	+	15	2755	c.2755C>T	c.(2755-2757)Cca>Tca	p.P919S	CACNA1I_uc003ayd.3_Missense_Mutation_p.P884S|CACNA1I_uc003aye.3_Missense_Mutation_p.P834S|CACNA1I_uc003ayf.3_Missense_Mutation_p.P799S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	919					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			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)	CCCCAGTCTCCCACTGGGTGG	0.662000														16			5		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:97868537C>T	uc003dsg.1	+	0	308	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(2)|p.S103S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393000														100			29		0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131811727	131811727	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:131811727A>C	uc004bxa.3	+	4	674	c.488A>C	c.(487-489)gAg>gCg	p.E163A	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Missense_Mutation_p.E163A	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	163						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AGAGGGATGGAGGAGTCTCTG	0.602000														8			6		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:20033087G>A	uc002wrs.3	-	1	415	c.383C>T	c.(382-384)tCc>tTc	p.S128F	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.S116F	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000														36			26		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602051	58602051	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:58602051C>T	uc001nnd.4	-	5	867	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	GLYATL2_uc009ymq.3_Missense_Mutation_p.E246K	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	246						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AGATACTTTTCAAGATGATAA	0.383000														34			16		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761311	55761311	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:55761311G>A	uc010riv.2	-	0	791	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S263R(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGAGTAGCTGGAACTAGGTCT	0.498000														28			9		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14369482	14369482	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:14369482G>A	uc003jff.3	+	18	3073	c.3067_splice	c.e18-1	p.V1023_splice	TRIO_uc003jfg.3_Splice_Site|TRIO_uc011cna.1_Splice_Site_p.V974_splice|TRIO_uc003jfh.1_Splice_Site_p.V672_splice	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1023					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTGCTCACAGGTCTGCAGCG	0.577000														45			15		0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34492564	34492564	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:34492564C>A	uc001mvm.3	+	11	1583	c.1494C>A	c.(1492-1494)gaC>gaA	p.D498E		NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	498					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTCTTCTGGACAAGTACAATG	0.502000														73			25		9.04412e-07	9.16158e-07	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777235	18777235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:18777235C>T	uc003zne.4	+	18	3160	c.3008C>T	c.(3007-3009)tCc>tTc	p.S1003F		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1003						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGATCTTCTCCAACGGCAGC	0.697000														12			11		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549442	56549442	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:56549442C>T	uc002qmj.3	+	9	2667	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	NLRP5_uc002qmi.3_Silent_p.I870I	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	889						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTCCCAAATCCTTACGACCT	0.537000														26			13		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142567897	142567897	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:142567897A>C	uc002tvj.1	-	1	1128	c.156T>G	c.(154-156)tgT>tgG	p.C52W	LRP1B_uc010fnl.1_Missense_Mutation_p.C89W	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	52	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTCCCCATCACACAGCCAGC	0.438000										TSP Lung(27;0.18)				14			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654825	179654825	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179654825C>T	uc021vsy.1	-	11	2043	c.1818G>A	c.(1816-1818)agG>agA	p.R606R	TTN_uc021vsz.1_Silent_p.R560R|TTN_uc021vta.1_Silent_p.R560R|TTN_uc021vtb.1_Silent_p.R560R|TTN_uc002unb.2_Silent_p.R606R|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	606							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)			CAACTGTTTTCCTAGTTTCCT	0.313000														14			8		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124578288	124578288	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:124578288G>A	uc003eho.3	-	2	459	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	54	PSI.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GTGGGCTTCCGAAGTCCTAGG	0.552000														27			4		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436147	56436147	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:56436147G>A	uc003xsf.3	+	2	1346	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	438						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGTGGTGGGGATTATCTATA	0.438000														106			65		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31015394	31015394	+	Silent	SNP	G	A	A	rs146944568	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:31015394G>A	uc003tbx.3	+	9	933	c.885G>A	c.(883-885)gtG>gtA	p.V295V	GHRHR_uc003tby.3_Silent_p.V231V|GHRHR_uc003tbz.3_Missense_Mutation_p.E62K	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	295					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ATTTCCAGGTGAACTTTGGGC	0.517000														22			13		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610820	50610820	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:50610820G>A	uc001csb.2	+	1	469	c.201G>A	c.(199-201)ggG>ggA	p.G67G	ELAVL4_uc001cry.3_Silent_p.G70G|ELAVL4_uc001crz.3_Silent_p.G67G|ELAVL4_uc001csa.3_Silent_p.G84G|ELAVL4_uc001csc.3_Silent_p.G67G|ELAVL4_uc009vyu.3_Silent_p.G72G|ELAVL4_uc010omz.2_Silent_p.G72G	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	67	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.G67R(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GTCTCTTCGGGAGCATTGGTG	0.428000														36			17		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605968	48605968	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:48605968C>T	uc003ctz.2	-	104	7760	c.7759_splice	c.e104-1	p.G2587_splice		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2587	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)		CAGGTTGACCCTGTGAGAAAC	0.662000														25			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:22473063C>T	uc001yuj.2	-	6		c.265G>A								Parts of antibodies, mostly variable regions.																		TGATAGATTTCCCCAATCCAC	0.567000														175			22		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450545	105450545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:105450545G>A	uc022cca.1	+	0	1120	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	MUM1L1_uc004emg.2_Missense_Mutation_p.E374K|MUM1L1_uc004emf.2_Missense_Mutation_p.E374K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	374										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGATGATGAGGAAGACGAAGA	0.383000														4			5		0	0	1	0	0
GSTA4	2941	broad.mit.edu	37	6	52847504	52847504	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:52847504C>T	uc003pbf.3	-	6	565	c.415_splice	c.e6-1	p.I139_splice	GSTA4_uc003pbd.3_Splice_Site_p.I46_splice	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	139	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTTAAAATCTGTAGGGAAA	0.408000														36			7		0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160555050	160555050	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:160555050C>T	uc003qtc.3	+	3	837	c.732C>T	c.(730-732)ttC>ttT	p.F244F	SLC22A1_uc003qtd.3_Silent_p.F244F	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	244						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGATGGCCTTCACGGTGGGGC	0.612000														29			13		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767608	57767608	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:57767608G>A	uc002yan.3	+	0	1534	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	512						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)					CTTCGTCGAGGGCTCCAGGAC	0.701000														12			7		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141762925	141762925	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:141762925C>T	uc002tvj.1	-	14	3454	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	828	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E828K(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCCATTTTCATCCAAAAGT	0.418000										TSP Lung(27;0.18)				27			6		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314407	54314407	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:54314407G>A	uc002qcj.4	-	2	726	c.506C>T	c.(505-507)cCc>cTc	p.P169L	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.P169L|NLRP12_uc002qci.4_Missense_Mutation_p.P169L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.P169L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	169					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACCTGCATGGGGTTTGAGTG	0.607000														51			21		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66951586	66951586	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:66951586G>A	uc002eql.3	-	2	282	c.88C>T	c.(88-90)Cca>Tca	p.P30S	CDH16_uc010cdy.3_Missense_Mutation_p.P30S|CDH16_uc021tjx.1_Missense_Mutation_p.P30S|CDH16_uc002eqm.3_Missense_Mutation_p.P30S	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	30	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TAGTTTTCTGGAACTTCCACA	0.582000														11			7		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227920819	227920819	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:227920819C>T	uc021vxr.1	-	28	2659	c.2558G>A	c.(2557-2559)gGg>gAg	p.G853E	COL4A4_uc021vxs.1_Missense_Mutation_p.G853E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	853	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGTCCTTTCCCACCTGGAGC	0.582000														41			14		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444252	49444252	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:49444252G>A	uc001rta.4	-	10	3119	c.3119C>T	c.(3118-3120)tCc>tTc	p.S1040F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1040	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						AGAGCACTGGGAAGGAGGGGA	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				33			11		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3747931	3747931	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:3747931G>A	uc010xhv.2	+	17	2561	c.2561G>A	c.(2560-2562)gGc>gAc	p.G854D	TJP3_uc010xhs.2_Missense_Mutation_p.G821D|TJP3_uc010xht.2_Missense_Mutation_p.G785D|TJP3_uc010xhu.2_Missense_Mutation_p.G830D|TJP3_uc010xhw.2_Missense_Mutation_p.G840D	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	835						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGCGAGGGCTACACAGAC	0.701000														39			13		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937270	21937270	+	RNA	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:21937270C>T	uc010tzj.1	-	0		c.3470G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATGATCAATTCCTTCTTTGGC	0.378000														66			12		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158153921	158153921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:158153921C>T	uc001frr.3	+	6	1488	c.989C>T	c.(988-990)tCc>tTc	p.S330F	CD1D_uc009wss.3_Missense_Mutation_p.S237F	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	330					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.S330S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCTCACAGTTCCTATCAGGGC	0.517000														54			20		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573677	106573677	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:106573677C>T	uc003ymd.3	+	3	411	c.388C>T	c.(388-390)Cct>Tct	p.P130S		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	130					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGGGCCGTTTCCTGGGAAGAT	0.433000														24			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181759	140181759	+	Missense_Mutation	SNP	G	A	A	rs148196865		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:140181759G>A	uc003lhf.2	+	0	977	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G326E	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	341	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G326E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATAAAGGAAATCCCCCA	0.378000														58			11		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429486	4429486	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:4429486G>C	uc002mal.3	+	8	1756	c.1656G>C	c.(1654-1656)agG>agC	p.R552S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	552					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGAGGAGGAAGTTTGGCA	0.592000								Chromatin Structure						34			11		0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940062	64940062	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:64940062C>T	uc010rnz.2	+	4	502	c.502C>T	c.(502-504)Cag>Tag	p.Q168*		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	168	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TGTGAGCCGCCAGTGCTGTGA	0.597000														37			8		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35763277	35763277	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:35763277G>A	uc011axy.2	+	11	1286	c.1074G>A	c.(1072-1074)agG>agA	p.R358R	ARPP21_uc003cga.3_Silent_p.R338R|ARPP21_uc003cgb.3_Silent_p.R392R|ARPP21_uc003cgf.3_Silent_p.R193R|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	392	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGCTGACCAGGGGTGACAGCA	0.522000														7			6		0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78082067	78082067	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:78082067C>T	uc003hkq.4	+	3	773	c.470C>T	c.(469-471)aCt>aTt	p.T157I	CCNG2_uc003hkn.4_Missense_Mutation_p.T157I|CCNG2_uc011ccc.1_Missense_Mutation_p.T157I|CCNG2_uc003hkp.4_Missense_Mutation_p.T157I	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	Homo sapiens cyclin G2 (CCNG2), mRNA.	157					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAGCTACTACTGCCTTAAAC	0.328000														24			3		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20010380	20010380	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:20010380C>T	uc001umd.3	-	15	1313	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E257K|TPTE2_uc001ume.3_Missense_Mutation_p.E291K|TPTE2_uc009zzm.3_Missense_Mutation_p.E39K|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.E39K	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	368	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GAAGGAGTTTCTACTCCCTGA	0.363000														15			8		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313227	54313227	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:54313227G>A	uc002qcj.4	-	2	1906	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.F562F|NLRP12_uc002qci.4_Silent_p.F562F|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.F562F	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	562					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTCCAAACAGGAAGCGGCTGG	0.607000														63			17		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52271993	52271993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:52271993C>T	uc002pxr.3	+	1	127	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	FPR2_uc002pxs.4_Missense_Mutation_p.L28F|FPR2_uc010epf.3_Missense_Mutation_p.L28F|FPR2_uc021uyp.1_Missense_Mutation_p.L28F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	28					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCTGCGGATCCTCCCATTGGT	0.542000														35			11		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66102494	66102494	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:66102494G>A	uc001ohn.1	-	5	903	c.776C>T	c.(775-777)cCa>cTa	p.P259L	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.P154L|RIN1_uc010rpa.1_Missense_Mutation_p.P154L	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	259	Pro-rich.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACGGCAGGTGGAGACAGGGG	0.667000														30			9		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851035	63851035	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:63851035C>T	uc001jlt.2	+	9	2269	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	ARID5B_uc001jlu.2_Silent_p.L362L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	605					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGCCACCGCTGGCAAACCA	0.537000														18			6		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907746	12907746	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:12907746G>A	uc010obf.2	-	1	623	c.397C>T	c.(397-399)Cct>Tct	p.P133S	LOC649330_uc009vno.2_Missense_Mutation_p.P133S	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	133							nucleic acid binding|nucleotide binding										ATGGGAGGAGGAGGAGGTACA	0.488000														68			24		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618577	20618577	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:20618577G>A	uc003gpr.1	+	34	4096	c.3892G>A	c.(3892-3894)Ggg>Agg	p.G1298R	SLIT2_uc003gps.1_Missense_Mutation_p.G1290R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1298	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAGGCCCCTGGGCAGAACGG	0.577000														35			8		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207606	81207606	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:81207606G>A	uc003hmd.3	+	2	824	c.587G>A	c.(586-588)gGa>gAa	p.G196E	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	196					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AATAAAAGAGGAAAAGCCAAA	0.468000														66			16		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223360	25223360	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:25223360G>A	uc021sgb.1	+	6	1631	c.589G>A	c.(589-591)Ggt>Agt	p.G197S	SNRPN_uc001ywp.1_Missense_Mutation_p.G194S|SNRPN_uc001ywq.1_Missense_Mutation_p.G194S|SNRPN_uc001ywr.1_Missense_Mutation_p.G194S|SNRPN_uc001yws.1_Missense_Mutation_p.G194S|SNRPN_uc001ywt.1_Missense_Mutation_p.G194S|SNRPN_uc001ywy.1_Missense_Mutation_p.G194S|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.G194S	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	194	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)		TCCTCCACCTGGTATGAGACC	0.507000									Prader-Willi syndrome					86			33		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044486	56044486	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:56044486G>A	uc003pcs.3	-	2	762	c.530C>T	c.(529-531)gCc>gTc	p.A177V	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.A177V|COL21A1_uc003pcu.1_Missense_Mutation_p.A177V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	177	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.D176N(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTAAGTTCGGCATCTTCTGT	0.393000														19			3		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507520	74507520	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:74507520C>T	uc001dfy.4	-	6	1287	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	365										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						CTGCATTATTCTTCAATGAAC	0.338000														33			10		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413250	24413250	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:24413250G>A	uc001bin.4	-	14	1845	c.1682C>T	c.(1681-1683)gCc>gTc	p.A561V	MYOM3_uc001bim.4_Missense_Mutation_p.A218V|MYOM3_uc001bio.3_Missense_Mutation_p.A561V|MYOM3_uc001bip.1_Missense_Mutation_p.A218V	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	561	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCAGAACGGCGAATCTCGG	0.552000														48			13		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935268	151935268	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:151935268G>A	uc022chl.1	-	0	899	c.899C>T	c.(898-900)tCc>tTc	p.S300F	MAGEA3_uc004fgp.3_Missense_Mutation_p.S300F	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	300	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGGGTAGGAAATGTGAGG	0.557000														25			28		0	0	1	0	0
MRPL54	116541	broad.mit.edu	37	19	3762665	3762665	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:3762665G>A	uc002lyq.4	+	1	1	c.-33_splice	c.e1-1		APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTTCCGGAAACGTGCAC	0.622000														58			25		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152584256	152584256	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:152584256G>A	uc021vrb.1	-	2	272	c.243C>T	c.(241-243)ttC>ttT	p.F81F	NEB_uc002txu.3_Silent_p.F81F|NEB_uc021vrc.1_Silent_p.F81F|NEB_uc010fnx.3_Silent_p.F81F|NEB_uc021vrd.1_Silent_p.F81F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	81					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGGGGTCATGAACTTTGAAG	0.473000														23			5		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7607896	7607896	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:7607896C>T	uc010xjq.2	+	14	1801	c.1561C>T	c.(1561-1563)Ccc>Tcc	p.P521S	PNPLA6_uc002mgq.2_Missense_Mutation_p.P473S|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Missense_Mutation_p.P473S|PNPLA6_uc002mgs.3_Missense_Mutation_p.P512S	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	512					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCCCCAGGACCCCTCCCTCCT	0.657000														39			16		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158300411	158300411	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:158300411C>T	uc002tzj.1	-	0	194	c.122G>A	c.(121-123)aGg>aAg	p.R41K	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	41					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CATTTGAATCCTTCTATTATC	0.502000														51			19		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053691	67053691	+	Silent	SNP	G	A	A	rs151133801		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:67053691G>A	uc003dmy.3	+	2	353	c.300G>A	c.(298-300)tcG>tcA	p.S100S	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	100	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAGCTGAATCGATGGATTTAG	0.403000														61			30		0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33984617	33984617	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:33984617G>A	uc002hjr.3	+	14	1986	c.1797_splice	c.e14-1	p.S599_splice	AP2B1_uc002hjq.3_Splice_Site_p.S599_splice|AP2B1_uc010wci.2_Splice_Site_p.S561_splice|AP2B1_uc002hjs.3_Splice_Site_p.S542_splice|AP2B1_uc002hjt.3_Splice_Site_p.S599_splice|AP2B1_uc010ctv.3_Splice_Site_p.S599_splice|AP2B1_uc010wcj.2_Splice_Site_p.S336_splice	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	599	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGTGACTTTAGCACTGATGCA	0.423000														19			6		0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	5004149	5004149	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:5004149G>A	uc003mwl.3	-	0	123	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	AK094934_uc003mwn.1_Non-coding_Transcript|RPP40_uc003mwm.3_Missense_Mutation_p.R30W	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	30					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ACAAGATGCCGGTGGCGCGAC	0.627000											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			19		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185975697	185975697	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:185975697G>A	uc003fqa.3	-	16	1993	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	DGKG_uc003fqb.3_Missense_Mutation_p.R447C|DGKG_uc003fqc.3_Missense_Mutation_p.R461C|DGKG_uc011brx.2_Missense_Mutation_p.R427C	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	486	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCAAAACACGGAAGTCTGGA	0.463000														29			15		0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773673	58773673	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:58773673G>A	uc010euo.3	+	6	2175	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Silent_p.Q539Q|ZNF544_uc010yhy.2_Silent_p.Q539Q|ZNF544_uc002qrt.4_Silent_p.Q425Q|ZNF544_uc002qru.4_Silent_p.Q425Q|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q567H(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCATACATCAGAGAATTCATA	0.418000														61			17		0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33095526	33095526	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:33095526G>A	uc010abe.1	-	4	269	c.247C>T	c.(247-249)Cct>Tct	p.P83S	N4BP2L2_uc001uuj.2_Missense_Mutation_p.P28S|N4BP2L2_uc010tdz.1_Missense_Mutation_p.P68S|N4BP2L2_uc001uuk.4_Missense_Mutation_p.P512S	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	512								p.P512>?(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AATTCTTCAGGATCAAATTTC	0.333000														31			17		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56363619	56363619	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:56363619C>T	uc002lhm.1	+	2	656	c.398C>T	c.(397-399)cCa>cTa	p.P133L	MALT1_uc002lhn.1_Missense_Mutation_p.P133L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	133	Ig-like C2-type 1.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ACTGTAAACCCAGAGTCAAAG	0.328000			T	BIRC3	MALT									6			4		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438588	75438588	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:75438588G>A	uc010rru.2	+	2	379	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	MOGAT2_uc001oww.1_Missense_Mutation_p.G127S|MOGAT2_uc010rrv.2_Missense_Mutation_p.G45S	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	127					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TGAGAGCACAGGCTTCTCTTC	0.582000														66			22		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162402318	162402318	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:162402318C>T	uc003iqh.3	-	12	1898	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	FSTL5_uc003iqi.3_Missense_Mutation_p.E487K|FSTL5_uc010iqv.3_Missense_Mutation_p.E478K	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	488						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGACAGACTTCATCCTGTAAT	0.353000														50			16		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89883650	89883650	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:89883650G>A	uc001pdf.4	+	5	593	c.484_splice	c.e5-1	p.G162_splice	NAALAD2_uc009yvx.3_Splice_Site_p.G162_splice|NAALAD2_uc009yvy.3_Splice_Site_p.G162_splice|NAALAD2_uc001pdd.2_Splice_Site_p.G162_splice|NAALAD2_uc001pde.3_Splice_Site_p.G162_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	162					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTCCCTATAGGGAGATCTTGT	0.303000														14			5		0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57955646	57955646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:57955646C>T	uc002ixw.2	-	4	875	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	TUBD1_uc010wok.2_Missense_Mutation_p.R196Q|TUBD1_uc010ddf.2_Missense_Mutation_p.R196Q|TUBD1_uc010wol.2_5'UTR|TUBD1_uc010ddg.2_Missense_Mutation_p.R161Q|TUBD1_uc010ddi.2_Intron|TUBD1_uc010ddh.2_Missense_Mutation_p.R77Q|TUBD1_uc002ixx.2_Missense_Mutation_p.R196Q	NM_016261	NP_001180542	Q9UJT1	TBD_HUMAN	Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA.	196					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GTCTGAAGATCGGTACAAGTG	0.378000														42			16		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039287	248039287	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248039287G>A	uc001ido.3	+	5	1005	c.957G>A	c.(955-957)tgG>tgA	p.W319*	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	319	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGAACCATGGAGGGATGTCC	0.582000														32			9		0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163117238	163117238	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:163117238G>A	uc001gcn.3	-	4	778	c.440C>T	c.(439-441)tCc>tTc	p.S147F	RGS5_uc021pdu.1_Missense_Mutation_p.S39F|RGS5_uc021pdt.1_Missense_Mutation_p.S151F|RGS5_uc009wvb.3_Missense_Mutation_p.S39F	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	147	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GCTGCTCAGGGAAGGTTCCAC	0.463000														32			10		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440662	124440662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:124440662C>T	uc010san.2	+	0	698	c.698C>T	c.(697-699)tCt>tTt	p.S233F		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTTCTTGTTTCTTACACCTTC	0.502000														23			12		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174550	150174550	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:150174550G>A	uc003whj.3	+	4	2010	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	560						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGAAATACGCGATTATGCTGT	0.473000														32			44		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811255	123811255	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:123811255C>T	uc001pzk.1	+	0	932	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P311L(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		CCTATTGGTCCCCTGGAGCAC	0.502000														36			15		0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37591724	37591724	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:37591724C>T	uc003gsw.4	+	3	230	c.47C>T	c.(46-48)cCa>cTa	p.P16L	C4orf19_uc003gsy.4_Missense_Mutation_p.P16L	NM_001104629	NP_060772	Q8IY42	CD019_HUMAN	Homo sapiens chromosome 4 open reading frame 19 (C4orf19), transcript variant 1, mRNA.	16										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTCTTTGATCCAGTTCAAGTG	0.438000														177			63		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61450224	61450224	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:61450224A>C	uc002sbe.3	-	63	7742	c.7720T>G	c.(7720-7722)Tgt>Ggt	p.C2574G		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2574					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGTATCGACACAGGCTGAAA	0.348000														18			6		0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28557087	28557087	+	Silent	SNP	T	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:28557087T>C	uc003ceh.3	+	7	927	c.759T>C	c.(757-759)gaT>gaC	p.D253D	ZCWPW2_uc003cei.3_Silent_p.D253D|ZCWPW2_uc010hfo.3_Silent_p.D58D	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	253							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTTATTCTGATGATGCCTTAT	0.303000														14			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585787	179585787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179585787C>T	uc021vsy.1	-	75	19452	c.19227G>A	c.(19225-19227)tgG>tgA	p.W6409*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.W3070*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7336	Ig-like 45.						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)			TGTTGTATTTCCAACTTTCAT	0.413000														46			28		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936713	4936713	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:4936713G>A	uc001lzr.1	-	0	181	c.181C>T	c.(181-183)Cat>Tat	p.H61Y		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGGTTCATGAAGTGAGCGC	0.488000														31			13		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224085	248224085	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248224085C>T	uc001idx.1	+	0	102	c.102C>T	c.(100-102)ttC>ttT	p.F34F	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTCATTTTCCTAATGGCTC	0.388000														122			53		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22248857	22248857	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:22248857G>A	uc001mqi.2	+	6	690	c.373G>A	c.(373-375)Gat>Aat	p.D125N	ANO5_uc001mqj.2_Missense_Mutation_p.D124N	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	125						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACTCGGAAGATGGAAGAAC	0.348000														50			18		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681240	44681240	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:44681240C>T	uc002oys.3	+	5	2005	c.1825C>T	c.(1825-1827)Cac>Tac	p.H609Y	ZNF226_uc002oyp.3_Missense_Mutation_p.H609Y|ZNF226_uc002oyq.3_Missense_Mutation_p.H492Y|ZNF226_uc002oyr.3_Missense_Mutation_p.H492Y|ZNF226_uc002oyt.3_Missense_Mutation_p.H609Y	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CTGTAGGATCCACACAGGAGA	0.458000														54			9		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25119215	25119215	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:25119215G>A	uc003abd.1	-	18	2683	c.2266C>T	c.(2266-2268)Cta>Tta	p.L756L	PIWIL3_uc011ajx.1_Silent_p.L638L|PIWIL3_uc010gut.1_Silent_p.L747L|PIWIL3_uc011ajy.1_Silent_p.L638L	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	756	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATGAAAGCTAGAGTGAAACTT	0.343000														14			7		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159165971	159165971	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:159165971C>T	uc002tzq.3	-	8	1398	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	CCDC148_uc002tzr.3_Missense_Mutation_p.E210K|CCDC148_uc010foh.3_Missense_Mutation_p.E75K|CCDC148_uc010fok.2_Missense_Mutation_p.E276K|CCDC148_uc010foi.2_Missense_Mutation_p.E309K|CCDC148_uc010foj.2_Missense_Mutation_p.E210K	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	362										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCACACAATTCCTGTTGCTTT	0.403000														22			9		0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73334727	73334727	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:73334727G>A	uc001vix.4	-	19	3107	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	DIS3_uc001viy.4_Silent_p.I881I|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	911					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGTCTAACATGATTTTCACTT	0.333000										Multiple Myeloma(4;0.011)				25			8		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122538699	122538699	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:122538699G>A	uc004etq.4	+	9	1726	c.1434G>A	c.(1432-1434)ggG>ggA	p.G478G	GRIA3_uc004etr.4_Silent_p.G478G|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.G462G	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	478					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTGGTGACGGGAAATATGGTG	0.398000														17			23		0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38028015	38028015	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:38028015C>T	uc003atc.3	+	14	1928	c.1541C>T	c.(1540-1542)cCc>cTc	p.P514L	GGA1_uc003ate.3_Missense_Mutation_p.P510L|GGA1_uc003atd.3_Missense_Mutation_p.P427L|GGA1_uc003atf.3_Missense_Mutation_p.P441L|SH3BP1_uc003atg.1_5'Flank	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	514	GAE.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AACATCCTGCCCGTGACTGTG	0.657000														30			9		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35709098	35709098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:35709098C>T	uc003jjo.3	+	18	2825	c.2714C>T	c.(2713-2715)tCc>tTc	p.S905F	SPEF2_uc003jjq.4_Missense_Mutation_p.S900F|SPEF2_uc003jjp.1_Missense_Mutation_p.S391F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	905					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAGCAGCTTCCCTGGCTGAG	0.418000														23			11		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125078772	125078772	+	Missense_Mutation	SNP	C	T	T	rs145959839		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:125078772C>T	uc003yqw.3	+	26	3865	c.3659C>T	c.(3658-3660)tCc>tTc	p.S1220F	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1220						integral to membrane		p.S1220F(2)		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)			TATTATGCCTCCCTGAAGAAA	0.483000														82			56		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157256616	157256616	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:157256616G>T	uc003qqp.3	+	3	1904	c.1904G>T	c.(1903-1905)gGc>gTc	p.G635V	ARID1B_uc003qqo.3_Missense_Mutation_p.G648V|ARID1B_uc003qqn.3_Missense_Mutation_p.G635V|ARID1B_uc003qqq.1_Missense_Mutation_p.G5V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	635					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			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)		TCTCAGGAAGGCTATGGAACT	0.368000														40			3		1	1	1	1	0
C12orf63	374467	broad.mit.edu	37	12	97137536	97137536	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:97137536G>A	uc021rcc.1	+	20	2758	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	894										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGAAGGAAATGAATTTATTTC	0.343000														11			7		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688787	26688787	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:26688787G>A	uc003acb.3	+	1	706	c.510G>A	c.(508-510)ccG>ccA	p.P170P	SEZ6L_uc003acd.3_Silent_p.P170P|SEZ6L_uc011akd.2_Silent_p.P170P|SEZ6L_uc003ace.3_Silent_p.P170P|SEZ6L_uc011akc.2_Silent_p.P170P|SEZ6L_uc003acc.3_Silent_p.P170P|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	170						endoplasmic reticulum membrane|integral to membrane		p.P170P(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGGGGACCCGGACCCCATCG	0.667000														41			17		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111274	64111274	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:64111274C>T	uc001nzy.3	+	12	1392	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	CCDC88B_uc009ypo.2_Missense_Mutation_p.S445L|CCDC88B_uc001nzz.1_Missense_Mutation_p.S97L	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	448					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGGCCCCCTCGCTGCAAGAT	0.642000														5			3		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466086	220466086	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:220466086C>T	uc002vml.3	+	2	267	c.224C>T	c.(223-225)tCc>tTc	p.S75F	STK11IP_uc010zlj.2_Missense_Mutation_p.S64F|STK11IP_uc010zlk.2_Missense_Mutation_p.S64F|STK11IP_uc010zll.2_Missense_Mutation_p.S64F|STK11IP_uc002vmm.1_Missense_Mutation_p.S64F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	75					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCTGCCCTCCCATCCTGCC	0.567000														34			8		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128697	152128697	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152128697G>A	uc001ezs.1	-	2	943	c.878C>T	c.(877-879)tCc>tTc	p.S293F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	293	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCGTAGTGGGAACTCTGGCC	0.498000														244			101		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563296	140563296	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:140563296G>A	uc003liv.3	+	0	2317	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGAAGACCTTCCCTT	0.463000														29			14		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80667059	80667059	+	Missense_Mutation	SNP	C	G	G	rs148821008		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:80667059C>G	uc002ffs.3	-	2	796	c.691G>C	c.(691-693)Gtc>Ctc	p.V231L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	231						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TTGTCAAAGACGTAGTCCTTC	0.498000														57			20		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	C	C	rs59802947	by1000genomes	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:12887686T>C	uc001auk.2	-	2	367	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	57								p.R57R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468000														119			6		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184107175	184107175	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:184107175G>A	uc003fov.3	+	22	3079	c.2833G>A	c.(2833-2835)Gat>Aat	p.D945N	CHRD_uc003fow.3_Missense_Mutation_p.D575N|CHRD_uc003fox.3_Missense_Mutation_p.D944N|CHRD_uc003foy.3_Missense_Mutation_p.D575N|CHRD_uc010hyc.3_Missense_Mutation_p.D535N|CHRD_uc011brr.2_Missense_Mutation_p.D487N	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	945					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACCAGAACTGATCCAGAGCT	0.607000														16			5		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50101038	50101038	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:50101038C>T	uc002poo.4	+	3	3446	c.3446C>T	c.(3445-3447)cCc>cTc	p.P1149L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	328							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AACCCAGGACCCGATGGCCCC	0.741000														12			3		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:108518712T>C	uc001vql.3	-	0	749	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	78	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677000														60			3		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031904	33031904	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:33031904C>T	uc001rlj.4	-	1	401	c.286G>A	c.(286-288)Gat>Aat	p.D96N	PKP2_uc001rlk.4_Missense_Mutation_p.D96N|PKP2_uc010skj.2_Missense_Mutation_p.D96N	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	96					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAACAAAATCATTTTCAACC	0.378000														31			13		0	0	1	0	0
RAB8A	4218	broad.mit.edu	37	19	16238325	16238325	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:16238325C>G	uc002ndn.4	+	4	625	c.403C>G	c.(403-405)Cgg>Ggg	p.R135G	RAB8A_uc010xpc.2_Missense_Mutation_p.R135G|AK095221_uc021uqd.1_Intron|RAB8A_uc002ndo.4_5'Flank	NM_005370	NP_005361	P61006	RAB8A_HUMAN	Homo sapiens RAB8A, member RAS oncogene family (RAB8A), mRNA.	135					Golgi vesicle fusion to target membrane|cilium assembly|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						TTCCAAGGAACGGGGAGAAAA	0.592000														12			5		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50241845	50241845	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:50241845C>T	uc002xwg.1	-	17	1902	c.1902G>A	c.(1900-1902)acG>acA	p.T634T	ATP9A_uc010gih.1_Silent_p.T498T|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	634					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						TCTCGATCACCGTGGCCACTT	0.632000														44			8		0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246961	97246961	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:97246961C>T	uc010kcl.3	-	2	1125	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GPR63_uc003pou.3_Missense_Mutation_p.G216E|GPR63_uc021zcy.1_Missense_Mutation_p.G216E	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	216						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTCGGGGTTTCCTACGGCTAA	0.463000														32			16		0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	844144	844144	+	Silent	SNP	A	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:844144A>G	uc002ckf.4	+	13	2040	c.1977A>G	c.(1975-1977)cgA>cgG	p.R659R	CHTF18_uc002cke.4_Silent_p.R631R|CHTF18_uc010brf.3_Silent_p.R213R|CHTF18_uc002ckg.4_Silent_p.R149R	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	631					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)				CCTCACAGCGATTCTACCGTG	0.687000														36			13		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21912939	21912939	+	Silent	SNP	T	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:21912939T>C	uc003svc.3	+	74	12067	c.12036T>C	c.(12034-12036)ctT>ctC	p.L4012L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4012	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGCTCCTTGAAAGATTCA	0.458000									Kartagener syndrome					9			6		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887745	3887745	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:3887745G>A	uc003bpt.4	+	1	2181	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.D474N	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	474	Ig-like C2-type.					integral to membrane		p.S473S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AACCCTTTCAGATAAATACAA	0.438000														35			9		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593780	101593780	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:101593780C>T	uc003knm.3	-	6	1427	c.1140G>A	c.(1138-1140)aaG>aaA	p.K380K		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	380					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGACAGCATTCTTCATCAAAT	0.284000														18			4		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797030	57797030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:57797030C>T	uc003hch.3	+	3	2353	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L	REST_uc003hci.3_Missense_Mutation_p.P669L|REST_uc010ihf.3_Missense_Mutation_p.P343L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	669	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGCTGCCTCCCGTGGAGCCT	0.607000														30			9		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349094	100349094	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:100349094C>T	uc003huv.2	-	4	677	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	ADH7_uc021xqj.1_Missense_Mutation_p.G154S	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	146					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ACTGGTTTGCCCTTGCATGTA	0.408000														57			14		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19628037	19628037	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:19628037G>A	uc002dgn.2	+	13	1446	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	C16orf62_uc002dgo.2_Intron|C16orf62_uc002dgp.2_Silent_p.L126L|C16orf62_uc002dgm.2_Silent_p.L466L	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	377						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGAACCAGCTGGTGGTCCAAG	0.512000														28			10		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1258276	1258276	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:1258276C>T	uc001lta.3	+	24	3238	c.3179C>T	c.(3178-3180)tCc>tTc	p.S1060F	MUC5B_uc009yct.2_Missense_Mutation_p.S1060F	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1060	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCTCCCCCTCCTGCCCGGAC	0.652000														21			6		0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43759319	43759319	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:43759319C>T	uc003cmx.3	+	5	1040	c.930C>T	c.(928-930)tcC>tcT	p.S310S		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	310					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GCATCCAGTCCTTACGACCAC	0.448000														44			19		0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124250037	124250037	+	Splice_Site	SNP	C	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:124250037C>A	uc003yqc.2	-	3	409	c.357_splice	c.e3+1	p.L119_splice	C8orf76_uc003yqd.3_Splice_Site_p.L87_splice	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	119							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATCACTCACCAAGTTTGCA	0.428000														38			6		1.06961e-07	1.08527e-07	1	1	0
MGAM	8972	broad.mit.edu	37	7	141758051	141758051	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:141758051C>T	uc003vwy.3	+	30	3796	c.3742C>T	c.(3742-3744)Ctg>Ttg	p.L1248L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1248	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.L1248L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGGTTCCAGCTGTGTCGCTA	0.478000														134			112		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60053375	60053375	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:60053375C>T	uc003jsi.4	-	7	797	c.597G>A	c.(595-597)aaG>aaA	p.K199K	ELOVL7_uc011cqo.2_Silent_p.K112K|ELOVL7_uc010iwk.3_Silent_p.K199K|ELOVL7_uc003jsj.4_Silent_p.K186K	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	199					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)				ACCACAAATACTTCTGGTAGG	0.388000														27			5		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082809	11082809	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:11082809G>A	uc003jfa.1	-	16	2933	c.2788_splice	c.e16+1	p.G930_splice	CTNND2_uc010itt.2_Splice_Site_p.G839_splice|CTNND2_uc011cmy.1_Splice_Site_p.G593_splice|CTNND2_uc011cmz.1_Splice_Site_p.G497_splice|CTNND2_uc010itu.1_Splice_Site|CTNND2_uc011cmx.1_Splice_Site_p.G522_splice	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	930					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I929I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGAACATACCGATGAGCTCCT	0.507000														54			14		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967973	4967973	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:4967973T>A	uc010qys.2	-	0	358	c.358A>T	c.(358-360)Atg>Ttg	p.M120L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAATGACATGATCAGGAGG	0.438000														116			28		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42314869	42314869	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:42314869G>A	uc002orn.1	+	6	704	c.628_splice	c.e6-1	p.M210_splice	CEACAM3_uc010eia.1_Splice_Site_p.D192_splice|CEACAM3_uc002oro.1_Splice_Site	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	210						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCTGTCCACAGATGTCCCCTC	0.577000														36			7		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1388614	1388614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:1388614C>T	uc002clk.2	+	1	327	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	BAIAP3_uc010uuz.2_Missense_Mutation_p.R22C|BAIAP3_uc010uva.2_Missense_Mutation_p.R22C|BAIAP3_uc021tag.1_Missense_Mutation_p.R22C|BAIAP3_uc002clj.3_Missense_Mutation_p.R22C|BAIAP3_uc010uvb.2_Missense_Mutation_p.R57C|BAIAP3_uc010uvc.1_Missense_Mutation_p.R22C	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	57					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCGTCCTTCCGCCGCAGGAC	0.701000														6			3		0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	T	T	rs113761247	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:32725559C>T	uc003obz.2	-	3	831	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000														9			4		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100919753	100919753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:100919753G>A	uc004aym.3	-	1	306	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	CORO2A_uc004ayl.3_Missense_Mutation_p.P64S|CORO2A_uc004ayn.2_Missense_Mutation_p.P64S	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	64					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGTGCAGGGGGATGACGAGG	0.577000														11			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725369	106725369	+	RNA	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:106725369C>T	uc021ser.1	-	927		c.22143G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.582000														184			36		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368729	22368729	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:22368729G>A	uc010tzu.2	+	0	252	c.154G>A	c.(154-156)Gac>Aac	p.D52N	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L51L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CATCAGTCTAGACCCTCATCT	0.413000														270			46		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:121929509C>G	uc004bkc.2	-	7	2595	c.2139G>C	c.(2137-2139)ggG>ggC	p.G713G		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	713					cell cycle arrest|cell death	cytoplasm	protein binding	p.P712L(1)|p.P712T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000														28			20		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916173	131916173	+	Silent	SNP	A	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:131916173A>G	uc003ytd.4	-	6	2012	c.1756T>C	c.(1756-1758)Tta>Cta	p.L586L	ADCY8_uc010mds.3_Silent_p.L586L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	586					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGCTTAATTAAGTAAGTTTCG	0.488000										HNSCC(32;0.087)				90			70		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662563	113662563	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:113662563G>A	uc003ynu.3	-	18	3179	c.3020C>T	c.(3019-3021)aCg>aTg	p.T1007M	CSMD3_uc003yns.3_Missense_Mutation_p.T279M|CSMD3_uc003ynt.3_Missense_Mutation_p.T967M|CSMD3_uc011lhx.2_Missense_Mutation_p.T903M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1007						integral to membrane|plasma membrane		p.T1007K(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAAGAATACGTGTTCACTGT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				83			13		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216380710	216380710	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:216380710C>T	uc001hku.1	-	15	3608	c.3221G>A	c.(3220-3222)tGg>tAg	p.W1074*	USH2A_uc001hkv.3_Nonsense_Mutation_p.W1074*	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1074	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGTGGACTCCAGGAGAGATT	0.433000										HNSCC(13;0.011)				31			16		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58495427	58495428	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:58495427_58495428CC>TA	uc002yaz.3	-	3	422_423	c.283_284GG>TA	c.(283-285)gga>TAa	p.G95*	SYCP2_uc010gju.1_5'Flank	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	95					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)			TTGTATTAGTCCTTGTTTTATC	0.307000														7			3		0	0	1	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36603488	36603488	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:36603488G>A	uc001bzx.3	-	3	420	c.332C>T	c.(331-333)cCc>cTc	p.P111L		NM_014408	NP_055223	O43617	TPPC3_HUMAN	Homo sapiens trafficking protein particle complex 3 (TRAPPC3), mRNA.	111						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				GTCCACCAAGGGGTTATTTTC	0.478000														40			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077304	9077304	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:9077304G>A	uc002mkp.3	-	2	10346	c.10142C>T	c.(10141-10143)tCa>tTa	p.S3381L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3382	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						ATCTGTCAATGAGCTCACAGA	0.473000														118			39		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123068939	123068939	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:123068939G>A	uc001ucv.3	+	34	3541	c.3378G>A	c.(3376-3378)ctG>ctA	p.L1126L	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1126					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTGTGGGACTGAATCTTCCTT	0.418000														37			11		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27772855	27772855	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:27772855C>T	uc002dow.3	+	18	3777	c.3753C>T	c.(3751-3753)tcC>tcT	p.S1251S		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1251										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCTCTGCTTCCCCCAGAGACT	0.582000														39			13		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880600	200880600	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:200880600G>A	uc001gvo.3	+	8	1276	c.1234G>A	c.(1234-1236)Ggt>Agt	p.G412S	C1orf106_uc010ppm.2_Missense_Mutation_p.G327S	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	412										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTCCGGGCGGGTCCTGAGGG	0.642000														197			64		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804872	54804872	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:54804872G>A	uc003pck.3	+	4	1219	c.1103G>A	c.(1102-1104)gGt>gAt	p.G368D		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	368										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACTTTAATGGTCCAAACGCA	0.363000														32			11		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10267746	10267746	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10267746G>A	uc002gmk.1	-	2	192	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	34	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGCTTTCTTGGAATCGAATG	0.463000														10			4		0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37242588	37242588	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:37242588G>A	uc001zjr.3	-	8	1988	c.914C>T	c.(913-915)tCc>tTc	p.S305F	MEIS2_uc001zjl.3_Missense_Mutation_p.S292F|MEIS2_uc010ucj.2_Missense_Mutation_p.S292F|MEIS2_uc001zjm.3_Missense_Mutation_p.S217F|MEIS2_uc001zjn.3_Missense_Mutation_p.S159F|MEIS2_uc001zjo.3_Missense_Mutation_p.S305F|MEIS2_uc001zjp.3_Missense_Mutation_p.S305F|MEIS2_uc001zjs.3_Missense_Mutation_p.S305F|MEIS2_uc001zju.3_Missense_Mutation_p.S292F|MEIS2_uc001zjt.3_Missense_Mutation_p.S305F	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	305					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S305F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTGCTCTTCGGAAGGGTACGG	0.393000														63			30		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139233	178139233	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:178139233G>A	uc003mjj.3	-	4	1844	c.1646C>T	c.(1645-1647)cCc>cTc	p.P549L		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	549					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACATTTAAAGGGTTTTTCTCC	0.373000														43			12		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62579784	62579784	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:62579784G>A	uc001dab.3	+	34	4635	c.4521G>A	c.(4519-4521)caG>caA	p.Q1507Q	INADL_uc009waf.1_Silent_p.Q1537Q|INADL_uc001daa.2_Silent_p.Q1479Q|INADL_uc001dad.3_Silent_p.Q1204Q|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Silent_p.Q321Q|INADL_uc009wag.3_Silent_p.Q291Q|INADL_uc010oou.1_Silent_p.Q152Q	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1507	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCCTGAGGCAGACCCCCCAGA	0.557000														26			6		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10544474	10544474	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10544474C>T	uc002gmq.2	-	18	2181	c.2093G>A	c.(2092-2094)gGt>gAt	p.G698D		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	698	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCCAGGACACCGTTACACCG	0.463000														48			22		0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774001	52774001	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:52774001G>A	uc002xwv.2	-	9	1758	c.1360C>T	c.(1360-1362)Cca>Tca	p.P454S	CYP24A1_uc002xwu.1_Missense_Mutation_p.P312S|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	454					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACGCCAAATGGAAGATGCGCA	0.423000														48			14		0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379078	25379079	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:25379078_25379079CC>TT	uc003gro.3	+	1	158_159	c.29_30CC>TT	c.(28-30)tcc>tTT	p.S10F		NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	10					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|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	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGTTTCCCATCCTTCCGGGTGG	0.634000														20			10		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974752	20974752	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:20974752A>C	uc010vbe.2	-	52	10454	c.10454T>G	c.(10453-10455)gTg>gGg	p.V3485G	DNAH3_uc010vbd.2_Missense_Mutation_p.V920G	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3485					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACCGCTGGCACCATTTTGTC	0.527000														27			8		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26792968	26792968	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:26792968A>C	uc001zbb.3	-	9	1665	c.1562T>G	c.(1561-1563)tTa>tGa	p.L521*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.L394*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.L380*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.L465*|GABRB3_uc001zba.3_Nonsense_Mutation_p.L465*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	465					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAGTAAACTAAGTTGAAAAG	0.353000														22			5		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329915	33329915	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:33329915G>A	uc002xav.3	-	11	6716	c.4145C>T	c.(4144-4146)gCc>gTc	p.A1382V	NCOA6_uc002xaw.3_Missense_Mutation_p.A1382V|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.A1382V|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1382					DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGGGGGATTGGCCAGAGGAGT	0.502000														34			23		0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1323954	1323954	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:1323954G>A	uc003jch.3	-	11	1274	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	CLPTM1L_uc003jcg.3_Missense_Mutation_p.P241S	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	410					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACACAGAGAGGGTACAGCAGG	0.522000														16			6		0	0	1	0	0
FTSJD2	23070	broad.mit.edu	37	6	37414177	37414178	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:37414177_37414178CC>TT	uc003ons.3	+	3	649_650	c.396_397CC>TT	c.(394-399)ctccgg>ctTTgg	p.R133W	FTSJD2_uc010jwu.2_Missense_Mutation_p.R133W	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	133	G-patch.				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	p.R133W(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GTCTGACACTCCGGGGCTTTGA	0.525000														124			29		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	80030909	80030909	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:80030909C>T	uc004akr.3	+	71	9772	c.9512C>T	c.(9511-9513)tCt>tTt	p.S3171F	VPS13A_uc004aks.3_Missense_Mutation_p.S3132F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	3171					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGAACCTTCTCCGAGCCTC	0.418000														34			14		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437408	201437408	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:201437408C>T	uc002uvw.2	+	6	2452	c.2339C>T	c.(2338-2340)tCt>tTt	p.S780F	SGOL2_uc010zhd.1_Missense_Mutation_p.S780F|SGOL2_uc010zhe.1_Missense_Mutation_p.S780F	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	780					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTGTATGATTCTGAGATTCAA	0.383000														27			8		0	0	1	0	0
CREBZF	58487	broad.mit.edu	37	11	85375616	85375616	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:85375616G>A	uc001pas.2	-	0	567	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	102					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCCCAGACAGAAAGTCCATA	0.711000														79			30		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170235712	170235712	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:170235712C>T	uc003mau.3	+	7	986	c.788C>T	c.(787-789)tCa>tTa	p.S263L	GABRP_uc011dev.2_Missense_Mutation_p.S263L	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	263						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTGGGTTTCATTTTGGATC	0.428000														26			10		0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99863277	99863277	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:99863277G>A	uc002szw.1	-	2	163	c.50C>T	c.(49-51)tCc>tTc	p.S17F	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.S17F|LYG2_uc002szx.1_Missense_Mutation_p.S17F	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	17					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TGAGCCCCTGGAAGTGCCTAG	0.502000														25			8		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154542000	154542000	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:154542000G>A	uc010ipp.3	+	26	3712	c.3660G>A	c.(3658-3660)aaG>aaA	p.K1220K	KIAA0922_uc003inm.4_Silent_p.K1219K|KIAA0922_uc010ipq.3_Silent_p.K988K	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1219						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CATGTAGAAAGAACAAGAAAA	0.313000														43			10		0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41939261	41939261	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:41939261G>A	uc002iem.3	+	6	1050	c.981G>A	c.(979-981)tcG>tcA	p.S327S		NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	327						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGGGCTTCTCGAAGTTTGTCT	0.607000														8			5		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	53893611	53893611	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:53893611G>C	uc001jjm.3	+	7	1130	c.902G>C	c.(901-903)aGa>aCa	p.R301T	PRKG1_uc001jjo.3_Missense_Mutation_p.R316T|PRKG1_uc009xow.2_Missense_Mutation_p.R19T	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	301					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAAGATGTGAGAACAGCAAAC	0.328000														12			9		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69651614	69651614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:69651614C>T	uc001sut.4	+	4	733	c.623C>T	c.(622-624)cCa>cTa	p.P208L	CPSF6_uc001suu.4_Missense_Mutation_p.P208L|CPSF6_uc010stk.2_5'Flank	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	208	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGCCGTTTTCCAGGGGCTGTT	0.542000														53			19		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92821673	92821673	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:92821673G>A	uc011khy.2	-	9	1371	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	HEPACAM2_uc003uml.3_Missense_Mutation_p.P415S|HEPACAM2_uc010lff.3_Silent_p.S406S|HEPACAM2_uc003umm.3_Missense_Mutation_p.P427S	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	427						integral to membrane		p.P415S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GACCTGCTTGGGATCTAGAAA	0.398000														33			9		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65983993	65983993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:65983993C>T	uc001oha.2	+	5	942	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	PACS1_uc001ogz.1_Missense_Mutation_p.R270C	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	270					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.R270C(2)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGTTGCAGATCGTTCTCCTGA	0.443000														24			11		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856182	62856182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:62856182G>A	uc002jey.2	-	10	4698	c.4082C>T	c.(4081-4083)tCc>tTc	p.S1361F	LRRC37A3_uc010wqg.1_Missense_Mutation_p.S479F|LRRC37A3_uc002jex.1_Missense_Mutation_p.S338F|LRRC37A3_uc010wqf.1_Missense_Mutation_p.S399F|LRRC37A3_uc010dek.1_Missense_Mutation_p.S367F|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1361						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTCTCTTAAGGATGAAAAAGC	0.398000														49			16		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28417554	28417554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:28417554G>A	uc002het.3	+	19	3991	c.3799G>A	c.(3799-3801)Gat>Aat	p.D1267N	EFCAB5_uc010cse.3_Missense_Mutation_p.D1022N|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1267							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGGAGTCCTCGATTTTAACAT	0.428000														41			19		0	0	1	0	0
C14orf43	91748	broad.mit.edu	37	14	74205722	74205722	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:74205722G>A	uc010tud.1	-	0	1237	c.990C>T	c.(988-990)gcC>gcT	p.A330A	C14orf43_uc001xot.3_Silent_p.A330A|C14orf43_uc001xou.3_Silent_p.A330A|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	330	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CTGGCTGCGGGGCTGAGTCCT	0.667000														10			3		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739232	138739232	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:138739232G>A	uc003esy.1	-	0	537	c.272C>T	c.(271-273)tCt>tTt	p.S91F		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	91										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCACCGAGAGACACTCGCAG	0.662000														29			18		0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30919743	30919743	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:30919743G>A	uc003nsg.2	+	1	3502	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	299						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAAGTCCACAGAACACCCAGA	0.463000														37			19		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161016426	161016426	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:161016426C>T	uc003qtl.3	-	21	3549	c.3429G>A	c.(3427-3429)acG>acA	p.T1143T		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3651	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGGACCACCGTGAGAGTTG	0.512000														45			19		0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109191331	109191331	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:109191331G>A	uc001dvt.4	-	7	1277	c.1039C>T	c.(1039-1041)Ctt>Ttt	p.L347F	HENMT1_uc001dvu.4_Missense_Mutation_p.L347F|HENMT1_uc009wer.3_3'UTR	NM_001102592	NP_653185	Q5T8I9	HENMT_HUMAN	Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA.	347					gene silencing by RNA|piRNA metabolic process	P granule	O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						GGATACGCAAGGAGTCTCTGC	0.463000														24			8		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367188	105367188	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:105367188C>T	uc003ylx.1	+	2	1162	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	371					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACCAAAATTCCTTCTATCTG	0.353000														31			25		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94377042	94377042	+	Missense_Mutation	SNP	C	T	T	rs145785994		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:94377042C>T	uc011cdt.2	+	10	2033	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	GRID2_uc011cdu.2_Missense_Mutation_p.P497L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	592					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGCTTAATCCCCCACGATTA	0.453000														35			10		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52194178	52194178	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:52194178C>G	uc003jou.3	+	10	1688	c.1274C>G	c.(1273-1275)tCt>tGt	p.S425C	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	425					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATGTTGAGTCTACCAAAAAG	0.348000														19			6		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941607	22941607	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:22941607G>A	uc021urt.1	-	3	1259	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.C367Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATATTTGTAGGGTTTCTCTT	0.368000														25			13		0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6452559	6452559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:6452559C>T	uc001mdg.2	-	9	1332	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	424					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GAGGTACAAGCCGGGACCATT	0.542000														54			16		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628533	71628533	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:71628533T>G	uc004agy.3	-	0	507	c.476A>C	c.(475-477)cAc>cCc	p.H159P		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	159	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTCGAGCGAGTGTAGGTACTG	0.627000														9			5		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50100154	50100154	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:50100154C>T	uc002poo.4	+	3	2562	c.2562C>T	c.(2560-2562)ctC>ctT	p.L854L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	33	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGCCCACCTCCGCAGCCATG	0.741000														7			3		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108296931	108296931	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:108296931C>T	uc003ymn.3	-	6	1652	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	ANGPT1_uc011lhv.2_Missense_Mutation_p.G195E|ANGPT1_uc003ymo.3_Missense_Mutation_p.G394E|ANGPT1_uc003ymp.4_Missense_Mutation_p.G194E	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	395	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTTTCATTTCCTATGTGGAA	0.378000														67			8		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207641906	207641906	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:207641906C>T	uc001hfw.3	+	2	599	c.480C>T	c.(478-480)atC>atT	p.I160I	CR2_uc001hfv.3_Silent_p.I160I|CR2_uc009xch.3_Silent_p.I160I|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	160	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCCTATGATCCACAATGGAC	0.433000														37			8		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99798576	99798576	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:99798576T>C	uc003utx.1	+	18	2200	c.2045T>C	c.(2044-2046)cTt>cCt	p.L682P	STAG3_uc010lgs.1_Missense_Mutation_p.L470P|STAG3_uc011kjk.1_Missense_Mutation_p.L624P|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_5'UTR	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	682					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCAGGAGCTTGAAGAGCTG	0.567000														34			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065866	9065866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:9065866C>T	uc002mkp.3	-	2	21784	c.21580G>A	c.(21580-21582)Gaa>Aaa	p.E7194K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7196	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						GAAGGGGATTCATGTCCAGAG	0.493000														81			33		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686075	100686075	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:100686075C>T	uc003uxp.1	+	2	11431	c.11378C>T	c.(11377-11379)tCa>tTa	p.S3793L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3793	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGCAGTTCATCTCCTACA	0.478000														45			11		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99251220	99251220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:99251220C>T	uc002bul.3	+	1	574	c.524C>T	c.(523-525)cCa>cTa	p.P175L	IGF1R_uc010urq.2_Missense_Mutation_p.P175L|IGF1R_uc010bon.3_Missense_Mutation_p.P175L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	175					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.P175Q(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AATAAGCCCCCAAAGGAATGT	0.517000														47			20		0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110475222	110475222	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:110475222G>A	uc001tpx.3	+	14	1895	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	ANKRD13A_uc010sxw.2_Missense_Mutation_p.E545K|ANKRD13A_uc001tpy.3_Missense_Mutation_p.E146K|ANKRD13A_uc001tpz.3_Missense_Mutation_p.E184K|ANKRD13A_uc001tqa.3_3'UTR	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	546										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CGCCCTGAGCGAGACAAGCCG	0.562000														32			37		0	0	1	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841131	4841131	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:4841131G>A	uc002fzo.2	-	7	1107	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	SLC25A11_uc002fzp.2_Missense_Mutation_p.P280S|SLC25A11_uc021tod.1_Missense_Mutation_p.P273S|SLC25A11_uc021toe.1_Missense_Mutation_p.P233S|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	284					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	p.P284Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GCATAGTACGGCGTGAAGCCC	0.592000														42			14		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924630	188924630	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:188924630G>A	uc003izh.1	+	3	1077	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ZFP42_uc003izi.1_Silent_p.G223G|ZFP42_uc021xvm.1_Silent_p.G223G	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	223					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGGAATGTGGGAAAGCGTTCG	0.507000														48			14		0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128111773	128111773	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:128111773C>T	uc004bpp.3	+	19	3515	c.3355C>T	c.(3355-3357)Ccg>Tcg	p.P1119S	GAPVD1_uc004bpq.3_Missense_Mutation_p.P1092S|GAPVD1_uc010mwx.3_Missense_Mutation_p.P1110S|GAPVD1_uc004bpr.3_Missense_Mutation_p.P1071S|GAPVD1_uc004bps.3_Missense_Mutation_p.P1065S|GAPVD1_uc004bpt.3_Missense_Mutation_p.P125S	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1110					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.P1119Q(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCAGCCCACCCGCAGGATTC	0.483000														21			8		0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17601203	17601203	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:17601203G>A	uc003ncc.3	+	0	686	c.563G>A	c.(562-564)cGg>cAg	p.R188Q		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	188						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCTGACCCGCGGACAGCTGCC	0.746000														9			3		0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473071	105473071	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:105473071T>G	uc010ywg.2	+	0	1103	c.1103T>G	c.(1102-1104)cTg>cGg	p.L368R		NM_006236	NP_006227	P20264	PO3F3_HUMAN	Homo sapiens POU class 3 homeobox 3 (POU3F3), mRNA.	368	POU-specific.				metanephric DCT cell differentiation|metanephric ascending thin limb development|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCCTGCAGCTGAGCTTCAAG	0.622000														60			9		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420775	55420775	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:55420775C>T	uc002qib.2	+	3	565	c.527C>T	c.(526-528)cCc>cTc	p.P176L	NCR1_uc002qic.2_Missense_Mutation_p.P176L|NCR1_uc002qie.2_Missense_Mutation_p.P176L|NCR1_uc002qid.2_Missense_Mutation_p.P81L|NCR1_uc002qif.2_Missense_Mutation_p.P81L|NCR1_uc010esj.2_Missense_Mutation_p.P69L	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	176	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GCGGAGTTCCCCCTGGGCCCT	0.572000														52			18		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:21971209T>A	uc003zpk.3	-	2	457	c.151_splice	c.e2-1	p.V51_splice	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Splice_Site|CDKN2A_uc010miu.3_Splice_Site_p.V51_splice|CDKN2A_uc003zpl.3_Splice_Site_p.G65_splice	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	51					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				8			12		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060811	111060811	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:111060811C>T	uc001dzt.1	-	0	987	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	200			R -> H (in a colorectal cancer sample; somatic mutation).			voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R200H(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCAGAACTGACGGTGGATGTC	0.547000														28			18		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143594	103143594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:103143594C>T	uc022ajr.1	-	51	8518	c.8358G>A	c.(8356-8358)tgG>tgA	p.W2786*	RELN_uc022ajq.1_Nonsense_Mutation_p.W2786*|RELN_uc010liz.3_Nonsense_Mutation_p.W2786*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2786					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGATAATTCCAACTCACAC	0.413000														32			18		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262103	158262103	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:158262103C>T	uc001fru.3	+	2	850	c.558C>T	c.(556-558)ccC>ccT	p.P186P	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	186					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.P186H(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCACTTGCCCCCGATTTCTCT	0.453000														213			57		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107706266	107706266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:107706266G>A	uc010ljo.1	-	20	2861	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	LAMB4_uc003vey.2_Missense_Mutation_p.S926F|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	926	Laminin EGF-like 9.				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						CTGATAACAGGAATGGGCAAA	0.423000														50			27		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234621899	234621899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:234621899G>A	uc002vuw.3	+	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.E88K	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	87					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCCAGGACGAATTTGATCG	0.428000														56			17		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57913864	57913864	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:57913864G>A	uc002aei.3	+	3	508	c.377G>A	c.(376-378)aGa>aAa	p.R126K	GCOM1_uc002aej.3_Missense_Mutation_p.R126K|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.R126K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R126K	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	126					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GATGAGATGAGACAGAAGATT	0.468000														31			7		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705414	50705414	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:50705414C>T	uc002lfe.2	+	8	2117	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	DCC_uc010xdr.1_Nonsense_Mutation_p.R349*|DCC_uc010dpf.2_Nonsense_Mutation_p.R156*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	501	Fibronectin type-III 1.				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)		GTACACCTTTCGAGTTGTGGC	0.507000														7			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061180	9061180	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:9061180G>A	uc002mkp.3	-	2	26470	c.26266C>T	c.(26266-26268)Cct>Tct	p.P8756S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8758	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						GATTGAGCAGGACCTGGGGTG	0.498000														42			12		0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114837342	114837342	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:114837342C>T	uc001tvo.3	-	3	833	c.338G>A	c.(337-339)aGa>aAa	p.R113K	TBX5_uc001tvp.3_Missense_Mutation_p.R113K|TBX5_uc001tvq.3_Missense_Mutation_p.R63K|TBX5_uc010syv.2_Missense_Mutation_p.R113K	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	113					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAATTTGTATCTGTGATCGTC	0.463000														79			29		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263384	248263384	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248263384C>T	uc001ids.3	+	2	1044	c.707C>T	c.(706-708)gCc>gTc	p.A236V	OR2L13_uc021pmc.1_Missense_Mutation_p.A236V	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AGAAAAAAGGCCTTCACCACC	0.453000														45			23		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17252734	17252734	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:17252734C>T	uc002dfa.3	-	5	1407	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	441					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTCGGTATCGGGAGAGAAA	0.488000														34			8		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27216666	27216666	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:27216666G>A	uc003nja.3	+	2	293	c.278G>A	c.(277-279)gGa>gAa	p.G93E	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_5'UTR|PRSS16_uc010jqr.1_5'UTR|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	93					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCCAGGATGGACCCATATTC	0.532000														30			9		0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41864614	41864614	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:41864614G>A	uc003bab.3	-	0	95	c.44C>T	c.(43-45)gCt>gTt	p.A15V	ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.	15					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	U12-type spliceosomal complex|U2 snRNP|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						ACCAACACCAGCCTGCTTGCG	0.587000														31			9		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121440892	121440892	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:121440892C>T	uc001pxx.3	+	22	3379	c.3250C>T	c.(3250-3252)Cgc>Tgc	p.R1084C		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1084	LDL-receptor class A 1.				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)		CAACCAGTATCGCTGCAGCAA	0.493000														31			10		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32211145	32211145	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:32211145C>T	uc011alu.2	+	20	1815	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	DEPDC5_uc011als.2_Missense_Mutation_p.P538L|DEPDC5_uc003als.3_Missense_Mutation_p.P538L|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P538L|DEPDC5_uc003alr.2_Missense_Mutation_p.P538L|DEPDC5_uc011alt.2_Missense_Mutation_p.P510L	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	538					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATCCCACACCCCCACCTGCAC	0.552000														45			8		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841682	94841682	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:94841682C>A	uc002btj.3	+	0	253	c.188C>A	c.(187-189)cCa>cAa	p.P63Q	MCTP2_uc010urg.1_Missense_Mutation_p.P63Q|MCTP2_uc002bti.2_Missense_Mutation_p.P63Q|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.P63Q|MCTP2_uc002btg.4_Missense_Mutation_p.P63Q|MCTP2_uc002bth.4_Missense_Mutation_p.P63Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	63					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCCTTGGCCCCAGAGGGCCGG	0.612000														66			5		0.014758	0.0148293	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54327417	54327417	+	Silent	SNP	G	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:54327417G>T	uc002qcj.4	-	0	232	c.12C>A	c.(10-12)acC>acA	p.T4T	NLRP12_uc002qch.4_Silent_p.T4T|NLRP12_uc002qci.4_Silent_p.T4T|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.T4T	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	4	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCTGCCTGCGGTTCGTAGCA	0.602000														29			10		3.07112e-06	3.10596e-06	1	1	0
ADAM11	4185	broad.mit.edu	37	17	42855102	42855102	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:42855102C>T	uc002ihh.3	+	22	1941	c.1941C>T	c.(1939-1941)agC>agT	p.S647S	ADAM11_uc010wjd.2_Silent_p.S447S|ADAM11_uc002ihi.3_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	647	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.L646L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CTGACCTGAGCTATGTGGAGG	0.642000														29			7		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458389	248458389	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248458389G>A	uc010pzj.2	-	0	492	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F164S(1)		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)			CGCAATATGGGAAGCTCAGGG	0.582000														58			26		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829428	61829428	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:61829428G>A	uc001jky.3	-	36	11549	c.11211C>T	c.(11209-11211)ggC>ggT	p.G3737G	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3737					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTCCAGGGCCTTCTTTCT	0.418000														46			26		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140797872	140797872	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:140797872G>A	uc003lkn.2	+	0	613	c.446G>A	c.(445-447)gGg>gAg	p.G149E	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.G149E|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	149	Cadherin 2.				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)			GTCAGCCTGGGGATGGGAACA	0.408000														26			9		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600505	31600505	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:31600505G>A	uc003nvb.4	+	15	4304	c.4055G>A	c.(4054-4056)gGa>gAa	p.G1352E	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.G1352E	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1352	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGGCTGTGGGAACTCCTGGG	0.587000														60			18		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21695538	21695538	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:21695538G>A	uc003svc.3	+	28	5079	c.5048G>A	c.(5047-5049)gGa>gAa	p.G1683E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1683	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGGCAGTTGGAATGTACAGC	0.428000									Kartagener syndrome					8			11		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36091333	36091333	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:36091333G>A	uc004ddk.1	+	3	454	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	90						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TCTGGAAAAGGAAAAATATGA	0.378000														11			11		0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147790229	147790229	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:147790229A>G	uc003lpf.1	+	8	1114	c.994A>G	c.(994-996)Acc>Gcc	p.T332A	FBXO38_uc003lpg.1_Missense_Mutation_p.T332A|FBXO38_uc003lph.2_Missense_Mutation_p.T332A	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	332						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTCCCTAACCAAAGATGG	0.398000														75			29		0	0	1	0	0
NDUFC2-KCTD14	100532726	broad.mit.edu	37	11	77784179	77784179	+	Missense_Mutation	SNP	G	A	A	rs147426758		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:77784179G>A	uc021qnr.1	-	1	650	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	NDUFC2-KCTD14_uc021qns.1_Missense_Mutation_p.R59C|NDUFC2-KCTD14_uc021qnt.1_Intron|NDUFC2-KCTD14_uc009yuw.3_Missense_Mutation_p.R59C|NDUFC2-KCTD14_uc021qnv.1_Missense_Mutation_p.R59C|NDUFC2-KCTD14_uc021qnw.1_Intron	NM_001203260	NP_001190189	E9PQ53	E9PQ53_HUMAN	Homo sapiens NDUFC2-KCTD14 readthrough (NDUFC2-KCTD14), transcript variant 1, mRNA.	59					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial inner membrane|respiratory chain	NADH dehydrogenase (ubiquinone) activity										AGAAGCTGGCGATGCAAACCT	0.388000														34			11		0	0	1	0	0
LYSMD2	256586	broad.mit.edu	37	15	52015842	52015842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:52015842C>T	uc002abi.3	-	2	1111	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	LYSMD2_uc002abj.3_Missense_Mutation_p.E113K	NM_153374	NP_001137389	Q8IV50	LYSM2_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 2 (LYSMD2), transcript variant 1, mRNA.	204					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		GGACTTTCTTCATCTCTGAAA	0.338000														25			7		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188090	152188090	+	Silent	SNP	T	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152188090T>C	uc001ezt.1	-	2	6091	c.6015A>G	c.(6013-6015)caA>caG	p.Q2005Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2005					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGATCCATGTTGACCGTAGC	0.562000														572			28		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122830592	122830592	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:122830592A>C	uc004etu.3	-	5	478	c.446T>G	c.(445-447)gTt>gGt	p.V149G	THOC2_uc011muh.1_Missense_Mutation_p.V70G|THOC2_uc011mui.1_Missense_Mutation_p.V34G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	149					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTGATTTTAACTGACTTTTG	0.343000														9			14		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40699657	40699657	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:40699657C>T	uc001rmg.4	+	27	3969	c.3848C>T	c.(3847-3849)tCc>tTc	p.S1283F	LRRK2_uc009zjw.3_Missense_Mutation_p.S121F|LRRK2_uc001rmi.3_Missense_Mutation_p.S116F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1283					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.S1283T(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAACTAAGATCCTTTCCCAAT	0.363000														30			9		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331344	55331344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:55331344G>A	uc002qhl.4	+	3	595	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.A178T|KIR3DL2_uc010esf.3_Missense_Mutation_p.A83T|KIR3DL2_uc021vbo.1_Missense_Mutation_p.A178T|KIR3DL2_uc002qhk.4_Missense_Mutation_p.A178T			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	178	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGTCTCCAAGGCCAATTTCTC	0.517000														119			44		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380728	78380728	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:78380728C>T	uc001ozl.4	-	31	7125	c.6662G>A	c.(6661-6663)gGg>gAg	p.G2221E	ODZ4_uc001ozk.4_Missense_Mutation_p.G446E	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2221					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGCAGGTTCCCATTGAGGTC	0.552000														57			27		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645491	45645491	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:45645491C>T	uc003jok.3	-	1	670	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	215						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.M215L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTAAATAATTCATCTTGATCA	0.368000														17			7		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680607	72680607	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:72680607C>A	uc001sxa.3	+	1	956	c.926C>A	c.(925-927)tCc>tAc	p.S309Y		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	309					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.S309S(1)		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						GTGGAAACTTCCGTGTTTGAG	0.398000														59			12		1.05317e-09	1.07032e-09	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38951992	38951992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:38951992G>A	uc021yzh.1	+	86	13071	c.12962G>A	c.(12961-12963)tGg>tAg	p.W4321*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.W4104*|DNAH8_uc003oog.1_Nonsense_Mutation_p.W553*	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						GGTGTATCATGGAATACGGTT	0.378000														21			5		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826917	50826917	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:50826917G>A	uc002pru.1	-	1	1588	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	KCNC3_uc002prt.1_Silent_p.F67F	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	431					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GCAGCCCCACGAAGTGCCGGG	0.657000														27			8		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	347255	347255	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:347255G>A	uc002kkm.3	-	4	582	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	123					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTAATCTCACGAAGTTGCTGA	0.463000														40			19		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109087819	109087819	+	Silent	SNP	A	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:109087819A>G	uc002tec.3	+	5	2188	c.2034A>G	c.(2032-2034)gaA>gaG	p.E678E	GCC2_uc002ted.3_Silent_p.E577E	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	678					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTCTCTCTGAAGACAAAGAAG	0.323000														66			23		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256104	52256104	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:52256104G>A	uc003ddb.3	-	4	2729	c.2519C>T	c.(2518-2520)tCc>tTc	p.S840F	TLR9_uc003dda.2_Missense_Mutation_p.S743F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	743					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCCAAACCAGGAGTGGTCCAC	0.602000														60			18		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31375151	31375151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:31375151G>A	uc002wyc.3	+	5	869	c.548G>A	c.(547-549)aGc>aAc	p.S183N	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.S183N|DNMT3B_uc002wye.3_Missense_Mutation_p.S183N|DNMT3B_uc010ztz.2_Missense_Mutation_p.S141N|DNMT3B_uc010zua.2_Missense_Mutation_p.S107N|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.S195N	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	183	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACGCCCCAGAGCAGCAGTACC	0.637000														58			49		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21083628	21083628	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:21083628G>A	uc002zsz.4	-	38	4742	c.4481C>T	c.(4480-4482)cCc>cTc	p.P1494L	PI4KA_uc002zsy.4_Missense_Mutation_p.P304L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1494					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCTAGGTAGGGAGAGATGCT	0.632000														16			3		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640749	57640749	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:57640749C>T	uc002qny.3	+	3	1062	c.706C>T	c.(706-708)Cct>Tct	p.P236S	USP29_uc021vci.1_Missense_Mutation_p.P236S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	236					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAATGGAAATCCTAACCTAGA	0.413000														29			14		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50008459	50008459	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:50008459C>T	uc002itv.4	-	3	924	c.188G>A	c.(187-189)tGg>tAg	p.W63*	CA10_uc002itw.4_Nonsense_Mutation_p.W57*|CA10_uc002itx.4_Nonsense_Mutation_p.W57*|CA10_uc002ity.4_Nonsense_Mutation_p.W57*|CA10_uc002itz.2_Nonsense_Mutation_p.W57*	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	57					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GCAAAGATTCCAAGCTGAGTT	0.453000														71			18		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74278107	74278107	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:74278107G>A	uc002jrd.1	-	7	3783	c.3603C>T	c.(3601-3603)acC>acT	p.T1201T	QRICH2_uc010dgw.1_Silent_p.T45T	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1201							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGGAGCCAAGGTGTGGGCCT	0.622000														23			3		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10408543C>T	uc002gmo.3	-	20	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	791	IQ.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458000														52			16		0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128725298	128725298	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:128725298C>T	uc004bqb.3	+	7	1246	c.1130C>T	c.(1129-1131)aCc>aTc	p.T377I	PBX3_uc004bqc.3_Missense_Mutation_p.T196I|PBX3_uc004bqd.3_Silent_p.Y158Y|PBX3_uc011lzw.2_Missense_Mutation_p.T302I|PBX3_uc011lzx.2_Silent_p.Y250Y|PBX3_uc004bqe.3_Missense_Mutation_p.T285I	NM_006195	NP_001128250	P40426	PBX3_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 1, mRNA.	377					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TAGGTGGATACCCTCCGTCAT	0.393000														11			3		0	0	1	0	0
C7orf65	401335	broad.mit.edu	37	7	47694918	47694918	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:47694918C>T	uc010kyp.1	+	0	77	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	14										endometrium(1)|lung(2)	3						GAAGACGGCTCTGGCCGGGCC	0.617000														34			16		0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47295184	47295184	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:47295184G>A	uc002iop.1	+	2	867	c.369G>A	c.(367-369)aaG>aaA	p.K123K	ABI3_uc002ioq.1_Silent_p.K117K	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	123					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCGGCCAGAAGGTCATCGCCC	0.597000										HNSCC(55;0.14)				54			19		0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340871	220340871	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:220340871T>A	uc010puk.1	-	24	3117	c.2953A>T	c.(2953-2955)Atg>Ttg	p.M985L	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.M985L|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.M565L	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	985					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCCATCTCCATCTCTGATACC	0.383000														83			27		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126408631	126408631	+	Silent	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:126408631A>C	uc003ifj.4	+	15	12948	c.12948A>C	c.(12946-12948)acA>acC	p.T4316T	FAT4_uc011cgp.2_Silent_p.T2557T|FAT4_uc003ifi.1_Silent_p.T1794T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4316	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAACAGCAACAGTATTGTCTG	0.418000														31			18		0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62156693	62156693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:62156693G>A	uc001nte.4	+	4	864	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	ASRGL1_uc001ntf.4_Missense_Mutation_p.V194I|ASRGL1_uc001ntg.4_Missense_Mutation_p.V66I	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	194					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TAATAAAATGGTCGGCCGCGT	0.552000														53			26		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903714	4903714	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:4903714G>A	uc010qyp.2	+	0	666	c.666G>A	c.(664-666)tgG>tgA	p.W222*		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAAACCTTGGATCAGCAGTT	0.438000														50			10		0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154733	12154733	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:12154733G>A	uc021upl.1	-	3	1649	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	ZNF878_uc002mta.1_Missense_Mutation_p.L542F	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCATGGTAGAGAAAAGAGTTG	0.388000														23			11		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473421	19473421	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:19473421C>T	uc003jgd.3	-	12	2821	c.2287G>A	c.(2287-2289)Gat>Aat	p.D763N	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.D763N|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	763					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D763N(3)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAGTGATAATCCTGGTCTGAT	0.458000														36			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436331	179436331	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179436331T>A	uc021vsy.1	-	274	67049	c.66824A>T	c.(66823-66825)aAt>aTt	p.N22275I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N15970I|TTN_uc021vta.1_Missense_Mutation_p.N15903I|TTN_uc021vtb.1_Missense_Mutation_p.N15778I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23202	Fibronectin type-III 61.						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)			AACAATGTAATTATTGATAGA	0.448000														17			4		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18906877	18906877	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:18906877G>A	uc002guw.3	-	1	645	c.478C>T	c.(478-480)Cac>Tac	p.H160Y	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	160										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCTTTGATGTGGGCCTGCCCG	0.672000														28			9		0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70145866	70145866	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:70145866G>A	uc001job.3	-	7	1102	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.H190Y|RUFY2_uc010qiw.2_Missense_Mutation_p.H166Y|RUFY2_uc001jod.1_Missense_Mutation_p.H224Y|RUFY2_uc009xpv.1_Missense_Mutation_p.H107Y	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	273						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ACTCTTGAATGGAGGCTGCTG	0.338000														10			5		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445173	99445173	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:99445173G>A	uc003ury.1	+	4	484	c.381G>A	c.(379-381)aaG>aaA	p.K127K	CYP3A43_uc003urx.1_Silent_p.K127K|CYP3A43_uc003urz.1_Silent_p.K127K|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_5'UTR	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	127			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AAGAATGGAAGAGAATACGAA	0.363000														56			13		0	0	1	0	0
FABP3	2170	broad.mit.edu	37	1	31840318	31840318	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:31840318C>T	uc001bss.1	-	2	332	c.270G>A	c.(268-270)ggG>ggA	p.G90G		NM_004102	NP_004093	P05413	FABPH_HUMAN	Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA.	90					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		GAACAAGTTTCCCTCCATCCA	0.532000														68			18		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138650285	138650285	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:138650285G>A	uc011mdq.2	+	9	859	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	KCNT1_uc011mdr.2_Missense_Mutation_p.R89Q|KCNT1_uc010nbf.3_Missense_Mutation_p.R214Q|KCNT1_uc004cgo.1_Missense_Mutation_p.R11Q	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	262						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCATCCTGCGGACACAGTCA	0.597000														28			18		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872103	213872103	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:213872103C>T	uc002vem.3	-	7	1731	c.1562G>A	c.(1561-1563)gGg>gAg	p.G521E	IKZF2_uc010fuu.3_Missense_Mutation_p.G376E|IKZF2_uc002vej.3_Missense_Mutation_p.G468E|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.G447E|IKZF2_uc002vel.3_Missense_Mutation_p.G442E|IKZF2_uc010fuw.3_Missense_Mutation_p.G295E|IKZF2_uc010fux.3_Missense_Mutation_p.G295E|IKZF2_uc010fuy.3_Missense_Mutation_p.G449E|IKZF2_uc002ven.3_Missense_Mutation_p.G495E|IKZF2_uc002vei.3_Missense_Mutation_p.G299E	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	521					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)		TGTGTGCTCCCCTCGAACAAT	0.478000														31			11		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56994811	56994811	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:56994811G>A	uc001slq.1	-	21	4566	c.4372C>T	c.(4372-4374)Cga>Tga	p.R1458*	BAZ2A_uc001slp.1_Nonsense_Mutation_p.R1456*|BAZ2A_uc001slo.1_Nonsense_Mutation_p.R264*|BAZ2A_uc009zov.1_Nonsense_Mutation_p.R424*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.R1426*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1458					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CGGATACCTCGGGGGTGTAGG	0.537000														10			4		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795735	17795735	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:17795735C>T	uc003zna.3	+	8	1341	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	SH3GL2_uc011lmy.2_Silent_p.P304P	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	351					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TTGCCCTGCCCCATTAGGATG	0.488000														9			7		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13229028	13229028	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:13229028C>T	uc001rbi.3	+	10	1616	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	531						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGTTCCCCTCCATCCTTCTGG	0.552000														34			11		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655812	138655812	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:138655812C>T	uc003qhu.3	+	32	6000	c.5829C>T	c.(5827-5829)ttC>ttT	p.F1943F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1943					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGCCCTCCTTCCAGTCCGAGT	0.582000														17			5		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501836	28501836	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:28501836C>T	uc003nll.2	+	4	560	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	186					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TTGAAAAGTTCCTGGTGGGGC	0.507000														49			11		0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43175053	43175053	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:43175053G>A	uc001uyu.2	+	3	617	c.468G>A	c.(466-468)aaG>aaA	p.K156K	TNFSF11_uc001uyt.2_Silent_p.K83K	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	156					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ATCTGGCCAAGAGGAGCAAGC	0.438000														31			11		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634876	70634876	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:70634876G>A	uc001xly.3	-	1	1018	c.264C>T	c.(262-264)ttC>ttT	p.F88F	SLC8A3_uc001xlw.3_Silent_p.F88F|SLC8A3_uc001xlx.3_Silent_p.F88F|SLC8A3_uc001xlz.3_Silent_p.F88F|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	88					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACCCCAAGGAACATGTATA	0.493000														12			11		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77657056	77657056	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:77657056C>T	uc011bgk.2	+	21	3899	c.3256C>T	c.(3256-3258)Ctt>Ttt	p.L1086F	ROBO2_uc021xat.1_Missense_Mutation_p.L1098F|ROBO2_uc003dpy.4_Missense_Mutation_p.L1082F|ROBO2_uc003dpz.3_Missense_Mutation_p.L1086F|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.L209F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1082					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)		AGTCCAGCCCCTTCCTGGCAC	0.458000														25			5		0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167943	76167943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:76167943G>A	uc002jut.3	+	2	717	c.690G>A	c.(688-690)tgG>tgA	p.W230*	SYNGR2_uc002juu.1_Missense_Mutation_p.D201N			O43760	SNG2_HUMAN	Homo sapiens synaptogyrin 2 (SYNGR2), mRNA.	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			TGCATCTGTGGACAACTACCA	0.627000														81			26		0	0	1	0	0
SNORD114-31	767612	broad.mit.edu	37	14	101459632	101459632	+	RNA	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:101459632G>A	uc001yjv.3	+	0		c.60G>A								Homo sapiens small nucleolar RNA, C/D box 114-31 (SNORD114-31), small nucleolar RNA.																		TAAGTGCCTGGAACTCTGAGG	0.388000														28			15		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157815	26157815	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:26157815G>A	uc022bub.1	+	0	713	c.713G>A	c.(712-714)gGg>gAg	p.G238E	MAGEB18_uc004dbq.2_Missense_Mutation_p.G238E	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	238	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TTCCTCTATGGGGATCCCAGG	0.493000														0			7		0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	A	A	rs116284473	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:32725572G>A	uc003obz.2	-	3	818	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTGACGGATGATAAGGCCCA	0.557000														12			4		0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571377	86571377	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:86571377G>A	uc004anb.3	-	0	287	c.39C>T	c.(37-39)ttC>ttT	p.F13F	C9orf64_uc004anc.3_Intron	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	13										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTTCTGCAATGAATTTAGAGG	0.612000														18			9		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	T	T	rs4996269	by1000genomes	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:145296403C>T	uc021oul.1	+	2	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000														243			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974845	20974845	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:20974845C>T	uc010vbe.2	-	52	10361	c.10361G>A	c.(10360-10362)tGg>tAg	p.W3454*	DNAH3_uc010vbd.2_Nonsense_Mutation_p.W889*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3454					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCATGGGGCCAGGCCGAGTC	0.532000														35			9		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229574	3229574	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:3229574G>A	uc004crg.4	-	6	6827	c.6670C>T	c.(6670-6672)Cga>Tga	p.R2224*		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2224	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCTTATTTCGAGCTACGCAC	0.468000														17			14		0	0	1	0	0
SLC7A5P1	81893	broad.mit.edu	37	16	29624745	29624745	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:29624745T>A	uc002dtl.1	-	0	294	c.217A>T	c.(217-219)Acg>Tcg	p.T73S	LOC440354_uc002dsp.3_Non-coding_Transcript|BOLA2_uc010bzb.1_Intron					Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 1 (SLC7A5P1), non-coding RNA.																		AGCACGCCCGTGGGCGTCACG	0.692000														27			7		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389947	77389947	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:77389947C>T	uc002ffc.4	-	8	1769	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G	ADAMTS18_uc010chc.1_Silent_p.G38G|ADAMTS18_uc002ffe.1_Silent_p.G146G|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	450	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCAGGGATTCCCTTCTCCAT	0.428000														34			17		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399165	22399165	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:22399165C>T	uc001mqk.3	+	11	2041	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	543					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACCACCAAGTCTTATGGTGCC	0.383000														27			5		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640607	7640607	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:7640607C>G	uc001qsz.3	-	6	1625	c.1497G>C	c.(1495-1497)tgG>tgC	p.W499C	CD163_uc001qta.3_Missense_Mutation_p.W499C|CD163_uc009zfw.2_Missense_Mutation_p.W499C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	499	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.T498K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGATGGAGCCCCACGTGTCAC	0.507000														15			6		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133827325	133827325	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:133827325G>A	uc011ecs.2	+	13	1607	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	EYA4_uc011ecq.2_Missense_Mutation_p.D371N|EYA4_uc011ecr.2_Missense_Mutation_p.D377N|EYA4_uc003qec.4_Missense_Mutation_p.D425N|EYA4_uc003qed.4_Missense_Mutation_p.D425N|EYA4_uc003qee.4_Missense_Mutation_p.D402N|BC041459_uc003qef.1_Non-coding_Transcript|BC041459_uc003qeg.1_Non-coding_Transcript	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	425					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTTTTTTAATGATTTAGAGGT	0.373000														16			10		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328303	57328303	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:57328303T>C	uc002qnu.2	-	6	1858	c.1507A>G	c.(1507-1509)Aaa>Gaa	p.K503E	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_Missense_Mutation_p.K474E|PEG3_uc002qnv.2_Missense_Mutation_p.K503E|PEG3_uc002qnw.2_Missense_Mutation_p.K379E|PEG3_uc002qnx.2_Missense_Mutation_p.K377E|PEG3_uc010etr.2_Missense_Mutation_p.K503E	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	503					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)		TCAAAACGTTTCCCTCCAACC	0.448000														68			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634957	179634957	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179634957G>A	uc021vsy.1	-	35	8696	c.8471C>T	c.(8470-8472)cCa>cTa	p.P2824L	TTN_uc021vsz.1_Missense_Mutation_p.P2778L|TTN_uc021vta.1_Missense_Mutation_p.P2778L|TTN_uc021vtb.1_Missense_Mutation_p.P2778L|TTN_uc002unb.2_Missense_Mutation_p.P2824L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2824							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q2824L(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)			CCATTTTACTGGAACAGTGTC	0.428000														56			23		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60503331	60503331	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:60503331G>A	uc002ybn.2	+	11	1943	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	CDH4_uc002ybr.2_Missense_Mutation_p.E582K|CDH4_uc002ybp.2_Missense_Mutation_p.E545K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	619	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTGCCCAAGGAGGCGCAGAT	0.627000														154			138		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633872	70633872	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:70633872C>T	uc001xly.3	-	1	2022	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	SLC8A3_uc001xlw.3_Missense_Mutation_p.G423E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G423E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G423E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	423	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGACATGTCTCCCCCTTTCCT	0.507000														50			21		0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575519	49575519	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:49575519C>T	uc002xvy.1	+	0	157	c.140C>T	c.(139-141)tCg>tTg	p.S47L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	47					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GTTCCGGTGTCGCCGCTGCCG	0.637000														84			61		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813772	60813772	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:60813772G>A	uc010dds.3	-	6	1856	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	MARCH10_uc010ddr.3_Missense_Mutation_p.P486L|MARCH10_uc002jag.4_Missense_Mutation_p.P486L|MARCH10_uc002jah.2_Missense_Mutation_p.P485L|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	486							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAGTCTACTGGAATATCATC	0.423000														36			13		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50789856	50789856	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:50789856G>A	uc010enu.1	+	33	4704	c.4657G>A	c.(4657-4659)Gag>Aag	p.E1553K	MYH14_uc002prq.1_Missense_Mutation_p.E1520K|MYH14_uc002prr.1_Missense_Mutation_p.E1512K|MYH14_uc010ycb.2_Intron|MYH14_uc002prs.1_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1512					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACTGGAGGAGGAGCAGGAGGC	0.687000														11			3		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921353	24921353	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:24921353C>T	uc001ywo.3	+	0	813	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	113					cell differentiation|multicellular organismal development|spermatogenesis			p.S113S(2)|p.S112I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACCCCAGTTCCGTAAGGATCC	0.662000														29			21		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415274	121415274	+	Missense_Mutation	SNP	G	A	A	rs147482666		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:121415274G>A	uc010hrc.3	-	12	4222	c.4096C>T	c.(4096-4098)Cat>Tat	p.H1366Y	GOLGB1_uc003eei.4_Missense_Mutation_p.H1361Y|GOLGB1_uc003eej.4_Missense_Mutation_p.H1327Y|GOLGB1_uc021xcy.1_Missense_Mutation_p.H1286Y|GOLGB1_uc011bjm.1_Missense_Mutation_p.H1247Y|GOLGB1_uc010hrd.1_Missense_Mutation_p.H1325Y	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1361					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.V1365V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCAGCTTCATGGGATACTGTC	0.393000														89			20		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420931	55420931	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:55420931C>T	uc001sgp.4	+	1	1086	c.708C>T	c.(706-708)tcC>tcT	p.S236S	NEUROD4_uc021qyr.1_Silent_p.S236S	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	236					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GAGAATCGTCCTTTGGGAGCC	0.522000														39			13		0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244756721	244756721	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:244756721G>A	uc001iam.3	+	15	2273	c.2214G>A	c.(2212-2214)tcG>tcA	p.S738S	C1orf101_uc001iak.1_Silent_p.S292S|C1orf101_uc001ial.3_Silent_p.S738S|C1orf101_uc010pym.2_Silent_p.S587S|C1orf101_uc010pyn.2_Silent_p.S671S	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	738						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATCAGCCATCGAAAAACTTGG	0.323000														18			9		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23099047	23099047	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:23099047G>A	uc002dll.3	-	7	1525	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	USP31_uc010bxm.3_5'Flank	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	509					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTACAAACCTGAATGCAAACC	0.388000														18			5		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102231659	102231659	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:102231659G>A	uc001vpb.3	+	4	827	c.608G>A	c.(607-609)gGa>gAa	p.G203E	ITGBL1_uc010agb.3_Missense_Mutation_p.G154E|ITGBL1_uc001vpc.4_Missense_Mutation_p.G62E	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	203	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTACTGTGGAAACTGCTAC	0.428000														62			17		0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156555517	156555517	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:156555517C>T	uc021pbf.1	+	8	1505	c.1469C>T	c.(1468-1470)cCa>cTa	p.P490L		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	490							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTTTCCTTCCAGGCACAGTG	0.502000														35			18		0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44451270	44451270	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:44451270G>A	uc010okl.2	+	5	1108	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K	B4GALT2_uc001clg.3_Silent_p.K315K|B4GALT2_uc001clh.3_Silent_p.K249K|B4GALT2_uc001cli.3_Silent_p.K315K	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	315					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ACCGCGACAAGCATAACGAAC	0.582000														47			12		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48604605	48604605	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:48604605C>T	uc003ctz.2	-	108	8066	c.8065G>A	c.(8065-8067)Ggg>Agg	p.G2689R		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2689	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G2689W(2)		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)		CCTGGCTGCCCGTCAAAGCCT	0.607000														69			13		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960266	200960266	+	Silent	SNP	C	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:200960266C>A	uc001gvs.2	-	17	2783	c.2466G>T	c.(2464-2466)ctG>ctT	p.L822L	KIF21B_uc009wzl.2_Silent_p.L822L|KIF21B_uc001gvr.2_Silent_p.L822L|KIF21B_uc010ppn.2_Silent_p.L822L	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	822					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCAGGCGCCTCAGTGCAGAAA	0.667000														19			5		0.000602214	0.0006061	1	1	0
TTN	7273	broad.mit.edu	37	2	179644851	179644851	+	Missense_Mutation	SNP	A	G	G	rs150667217	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179644851A>G	uc021vsy.1	-	21	3830	c.3605T>C	c.(3604-3606)gTt>gCt	p.V1202A	TTN_uc021vsz.1_Missense_Mutation_p.V1156A|TTN_uc021vta.1_Missense_Mutation_p.V1156A|TTN_uc021vtb.1_Missense_Mutation_p.V1156A|TTN_uc002unb.2_Missense_Mutation_p.V1202A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1202			V -> A.				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)			TGTTTCTCCAACTTTAGGTTC	0.363000														22			5		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537733	90537733	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:90537733G>A	uc010mqi.3	+	3	2940	c.2911G>A	c.(2911-2913)Gaa>Aaa	p.E971K	FAM75C1_uc004apq.4_Missense_Mutation_p.E954K|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GCCCAACTTAGAAAAACATGA	0.493000														26			19		0	0	1	0	0
MRGPRF	116535	broad.mit.edu	37	11	68773055	68773055	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:68773055G>A	uc001ooo.4	-	2	1090	c.723C>T	c.(721-723)atC>atT	p.I241I	MRGPRF_uc001oop.4_Silent_p.I241I	NM_001098515	NP_659452	Q96AM1	MRGRF_HUMAN	Homo sapiens MAS-related GPR, member F (MRGPRF), transcript variant 1, mRNA.	241						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCATGGCCAGGATGACGTGGT	0.647000														7			3		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52370139	52370139	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:52370139C>T	uc003xqu.4	-	8	1002	c.901G>A	c.(901-903)Ggt>Agt	p.G301S		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	301	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.L300F(1)|p.R301W(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGATAGACACCTTGGTCTGAC	0.443000														45			46		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31286950	31286950	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:31286950C>T	uc002ebr.3	+	8	1037	c.939C>T	c.(937-939)ttC>ttT	p.F313F	ITGAM_uc002ebq.3_Silent_p.F313F|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	313	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ATCACGTGTTCCAGGTGAATA	0.527000														19			9		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519497	53519498	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:53519497_53519498GG>AA	uc003pcb.4	-	1	714_715	c.573_574CC>TT	c.(571-576)gcccag>gcTTag	p.Q192*		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	192	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ATAAATTTCTGGGCTGCTGCTT	0.342000														24			9		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31583499	31583499	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:31583499C>T	uc002wyi.3	-	7	553	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	154					spermatogenesis			p.E154K(2)|p.G153E(1)|p.G153W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCCTGGATTTCCCCACTGTGA	0.507000														116			30		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701922	56701922	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:56701922C>T	uc010ygh.2	-	3	762	c.762G>A	c.(760-762)ggG>ggA	p.G254G		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	254					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGGGTTCCTTCCCCTCCTTTG	0.488000														31			15		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347093	48347093	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:48347093C>T	uc010rhv.2	+	0	601	c.601C>T	c.(601-603)Cac>Tac	p.H201Y		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTGATCAATCACTTTGCCTG	0.517000														58			11		0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69782869	69782869	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:69782869G>A	uc002exs.3	-	5	694	c.678C>T	c.(676-678)gtC>gtT	p.V226V		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	226						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGTCCTCGGGGACGTCACACT	0.607000														24			8		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220334030	220334030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:220334030C>T	uc010fwg.3	+	12	3644	c.3644C>T	c.(3643-3645)cCc>cTc	p.P1215L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1215	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCGGCCTGCCCTACCCCACC	0.642000														15			13		0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	Silent	SNP	T	C	C	rs139643347	by1000genomes	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:141070111T>C	uc010ncq.3	+	3	1191	c.351T>C	c.(349-351)tcT>tcC	p.S117S						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000														45			3		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416270	121416270	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:121416270G>A	uc010hrc.3	-	12	3226	c.3100C>T	c.(3100-3102)Ctc>Ttc	p.L1034F	GOLGB1_uc003eei.4_Missense_Mutation_p.L1029F|GOLGB1_uc003eej.4_Missense_Mutation_p.L995F|GOLGB1_uc021xcy.1_Missense_Mutation_p.L954F|GOLGB1_uc011bjm.1_Missense_Mutation_p.L915F|GOLGB1_uc010hrd.1_Missense_Mutation_p.L993F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1029					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E1033*(1)|p.E1033Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTCTCACTGAGTGGGATTTCT	0.368000														28			11		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121625554	121625554	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:121625554A>G	uc003pyo.1	-	7	960	c.892T>C	c.(892-894)Tat>Cat	p.Y298H	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	298					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TCTTTCTGATATTCATTTAGA	0.363000														8			12		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44249329	44249330	+	Silent	DNP	GG	AA	AA			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:44249329_44249330GG>AA	uc002ikc.3	-	1	651_652	c.180_181CC>TT	c.(178-183)agccta>agTTta	p.60_61SL>SL	KANSL1_uc002ikd.3_Silent_p.60_61SL>SL|KANSL1_uc010dav.3_Silent_p.60_61SL>SL	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	60						MLL1 complex	protein binding										CGGAAATCTAGGCTGGGATCCT	0.485000														141			17		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239148	3239148	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:3239148C>T	uc004crg.4	-	4	4735	c.4578G>A	c.(4576-4578)aaG>aaA	p.K1526K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1526						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAACATTTTCCTTGGAATCTC	0.438000														16			26		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106980	14106980	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:14106980A>T	uc001avi.3	+	7	3546	c.2690A>T	c.(2689-2691)aAt>aTt	p.N897I	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.N897I|PRDM2_uc021ogk.1_Missense_Mutation_p.N660I|PRDM2_uc001avk.3_Missense_Mutation_p.N696I|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	897						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AATGAATATAATGGCATCGAT	0.478000														47			16		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806954	33806954	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:33806954C>T	uc002hjn.3	-	2	1076	c.362G>A	c.(361-363)gGa>gAa	p.G121E	SLFN12L_uc021tuy.1_Missense_Mutation_p.G92E	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	124						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TAGCCCTATTCCATCTTTTTT	0.383000														20			6		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125528186	125528186	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:125528186G>A	uc001lhk.1	-	8	1480	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	385					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCAGCTCCCGGCCCAGCACCT	0.597000														67			43		0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41854346	41854346	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:41854346A>G	uc002oqh.2	-	1	1252	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	BCKDHA_uc002oqi.3_5'Flank	NM_000660	NP_000651	P01137	TGFB1_HUMAN	Homo sapiens transforming growth factor, beta 1 (TGFB1), mRNA.	124					ATP biosynthetic process|SMAD protein complex assembly|SMAD protein import into nucleus|active induction of host immune response by virus|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of DNA replication|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of SMAD protein import into nucleus|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway|viral infectious cycle	Golgi lumen|extracellular space|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CTCTGCTTGAACTTGTCATAG	0.522000														62			21		0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38976675	38976675	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:38976675C>T	uc002hvi.3	-	4	894	c.868_splice	c.e4-1	p.E290_splice	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	290	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TCTTTCATTTCCTGTTTGAGG	0.428000														54			12		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223799336	223799336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:223799336G>A	uc002vni.3	+	15	2387	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	ACSL3_uc002vnj.3_Missense_Mutation_p.E646K	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	646					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AGGGACTTGGGAGGAGCTGTG	0.368000			T	ETV1	prostate									9			9		0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65040732	65040732	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:65040732G>A	uc002anq.3	-	5	705	c.453C>T	c.(451-453)tcC>tcT	p.S151S		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	151							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						AGGCCTCTGGGGATGCAGGGA	0.612000														57			12		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97870247	97870247	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:97870247G>A	uc003upg.3	-	7	1054	c.849C>T	c.(847-849)atC>atT	p.I283I	TECPR1_uc003uph.1_Silent_p.I213I	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	283						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGCTCCACGATGGACCAGG	0.612000														8			5		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546931	9546931	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:9546931G>A	uc002wnl.2	-	5	1636	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	PAK7_uc002wnk.2_Missense_Mutation_p.S364L|PAK7_uc002wnj.2_Missense_Mutation_p.S364L|PAK7_uc010gby.1_Missense_Mutation_p.S364L	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	364	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S364L(2)		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)			GGAATAGCCCGATTTGCTTTG	0.562000														83			54		0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488953	61488954	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:61488953_61488954CC>GT	uc002ydp.3	-	3	1124_1125	c.1031_1032GG>AC	c.(1030-1032)cgg>cAC	p.R344H	TCFL5_uc002ydo.3_Missense_Mutation_p.R117H|TCFL5_uc002ydq.3_Missense_Mutation_p.R343H	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	Homo sapiens transcription factor-like 5 (basic helix-loop-helix) (TCFL5), mRNA.	344					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GCATTCTACTCCGATTCCTCTT	0.446000														66			8		0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176860632	176860632	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:176860632G>A	uc021yit.1	+	7	853	c.693G>A	c.(691-693)gcG>gcA	p.A231A	GRK6_uc003mgq.2_Silent_p.A231A|GRK6_uc021yiu.1_Silent_p.A231A|GRK6_uc003mgs.1_Silent_p.A201A	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	231	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCATGGCGCTGAACGAGA	0.557000														49			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596173	179596173	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179596173C>T	uc021vsy.1	-	55	13813	c.13588G>A	c.(13588-13590)Gat>Aat	p.D4530N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1191N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5457	Ig-like 25.						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)			CTTATATTATCGTCTTCAGTG	0.478000														53			19		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13910419	13910419	+	Missense_Mutation	SNP	C	T	T	rs142084255	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:13910419C>T	uc001avd.3	+	0	168	c.119C>T	c.(118-120)cCa>cTa	p.P40L	PDPN_uc001avc.3_Missense_Mutation_p.P40L|PDPN_uc009vob.3_5'Flank|PDPN_uc009voc.3_5'Flank|PDPN_uc001ave.3_5'Flank|PDPN_uc001avf.3_5'Flank	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCGGCCCCCCCACCGTCGCGC	0.642000														23			10		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867567	6867567	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:6867567C>T	uc001met.1	+	0	654	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTTGTGTTCCTATACTCGCA	0.498000														73			23		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187158058	187158058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:187158058C>T	uc003iyy.3	+	4	523	c.452C>T	c.(451-453)tCa>tTa	p.S151L	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.S113L	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	151	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAGTTTTTTTCATATGCCACG	0.413000														22			8		0	0	1	0	0
C16orf13	84326	broad.mit.edu	37	16	684604	684604	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:684604T>G	uc002chw.1	-	4	597	c.540A>C	c.(538-540)gaA>gaC	p.E180D	C16orf13_uc002chv.1_Missense_Mutation_p.K203T|C16orf13_uc002chz.1_Missense_Mutation_p.E160D|C16orf13_uc002cia.1_Missense_Mutation_p.K126T|C16orf13_uc002cib.1_Missense_Mutation_p.K106T|AK301549_uc010uuk.2_5'Flank	NM_001040160	NP_001035250	Q96S19	CP013_HUMAN	Homo sapiens chromosome 16 open reading frame 13 (C16orf13), transcript variant 2, mRNA.	0										large_intestine(1)	1		Hepatocellular(780;0.00335)				GGCTTAGTTTTTCCGGAAGAT	0.617000														127			34		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761472	96761472	+	Silent	SNP	G	T	T	rs111350017		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:96761472G>T	uc003htr.4	+	0	234	c.171G>T	c.(169-171)gcG>gcT	p.A57A		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	57					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCACTAGGGCGGAGGGGCTTA	0.463000														26			13		0.0167234	0.0167772	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55452981	55452981	+	Silent	SNP	G	A	A	rs145372368	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:55452981G>A	uc002qih.4	-	1	175	c.99C>T	c.(97-99)ccC>ccT	p.P33P	NLRP7_uc010esk.3_Silent_p.P33P|NLRP7_uc002qig.4_Silent_p.P33P|NLRP7_uc002qii.4_Silent_p.P33P|NLRP7_uc010esl.3_Silent_p.P61P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	33	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGTCTTCGAGGGGAAAAGCCC	0.493000														27			10		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739504	55739504	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:55739504C>T	uc003pcq.3	-	0	872	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	BMP5_uc011dxf.2_Missense_Mutation_p.E54K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	54					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.E54K(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGAGAATTTCCCTTTGTATT	0.438000														48			27		0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57348352	57348352	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:57348352G>A	uc002ixk.2	+	7	909	c.766G>A	c.(766-768)Gat>Aat	p.D256N	GDPD1_uc002ixj.3_Missense_Mutation_p.D256N|GDPD1_uc021uas.1_Missense_Mutation_p.D256N	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 1 (GDPD1), transcript variant 1, mRNA.	256	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTGGCTTTCTGATCTGTAAGA	0.303000														34			13		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275938	130275938	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:130275938C>T	uc001qgg.4	-	8	2543	c.2185G>A	c.(2185-2187)Gat>Aat	p.D729N	ADAMTS8_uc001qgf.3_Missense_Mutation_p.D210N	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	729	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TAGTTCCCATCGTTCTGCACA	0.547000														70			24		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15851693	15851693	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:15851693G>A	uc002ddx.3	-	13	1694	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	MYH11_uc002ddv.3_Silent_p.I529I|MYH11_uc002ddw.3_Silent_p.I522I|MYH11_uc002ddy.3_Silent_p.I522I|MYH11_uc010bvg.3_Silent_p.I354I|MYH11_uc002dea.1_Silent_p.I228I	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	522	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCGGTCGCTCGATGAGCTCGA	0.627000			T	CBFB	AML									35			12		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973803	235973803	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:235973803G>A	uc001hxj.2	-	4	490	c.315C>T	c.(313-315)atC>atT	p.I105I	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.I105I	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	105					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTGGTCAGGATTATATCTG	0.353000														25			9		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341157	14341157	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:14341157C>T	uc010uza.2	+	11	2195	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	MKL2_uc002dcg.3_Silent_p.I680I|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	669	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGTAGTTATCAAGCAAGAGG	0.597000														41			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778089	140778089	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:140778089A>T	uc003lkf.2	+	0	395	c.395A>T	c.(394-396)aAa>aTa	p.K132I	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.K132I	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	132	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)			CACACGCCAAAATTCACGCAA	0.423000														25			6		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136934353	136934353	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:136934353T>G	uc003qhc.3	-	16	2681	c.2320A>C	c.(2320-2322)Aaa>Caa	p.K774Q	MAP3K5_uc011edj.2_Missense_Mutation_p.K21Q|MAP3K5_uc011edk.1_Missense_Mutation_p.K619Q	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	774	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCATTGTCTTTTAATGGACCC	0.358000														15			9		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126138823	126138823	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:126138823G>A	uc010hsg.1	+	9	976	c.917_splice	c.e9-1	p.G306_splice	CCDC37_uc003eiu.1_Splice_Site_p.G305_splice	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	305										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CTTCCTGCAGGACCAGGGATC	0.662000														27			11		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1128877	1128877	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:1128877C>T	uc021taf.1	+	1	80	c.9C>T	c.(7-9)ccC>ccT	p.P3P	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.P3P	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	3					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCATGGAGCCCCTGTTCCCAG	0.692000														12			4		0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88857312	88857312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:88857312G>A	uc002stc.4	-	16	3595	c.3293C>T	c.(3292-3294)tCg>tTg	p.S1098L		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	1098					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTTTGTTCCCGATGAACTCAA	0.433000														63			15		0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46177967	46177967	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:46177967C>T	uc002pcu.1	+	6	615	c.516C>T	c.(514-516)atC>atT	p.I172I	GIPR_uc002pct.1_Silent_p.I172I|GIPR_uc010xxp.1_Silent_p.I136I|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642A_uc021uvx.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	172					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GAAACTATATCCACATCAACC	0.557000														22			7		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180726	142180726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:142180726C>T	uc011krz.2	-	1	182	c.133G>A	c.(133-135)Gat>Aat	p.D45N	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.D45N|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGTTCATATCCTGGGCACAC	0.512000														285			54		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907635	164907635	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:164907635G>A	uc003fej.4	-	1	1428	c.984C>T	c.(982-984)tcC>tcT	p.S328S	SLITRK3_uc003fek.3_Silent_p.S328S|SLITRK3_uc021xgy.1_Silent_p.S328S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	328						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						GTTTATTTGAGGACTTGTATT	0.478000										HNSCC(40;0.11)				94			38		0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843130	137843130	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:137843130C>T	uc003ers.2	-	2	1201	c.999G>A	c.(997-999)ggG>ggA	p.G333G		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	333					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	p.G333R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GACCCAGCTCCCCAGTCACTG	0.493000														43			21		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246831	164246831	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:164246831C>T	uc003iqm.2	-	2	1244	c.779G>A	c.(778-780)aGa>aAa	p.R260K	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.R17K	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	260					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATATTGATTCTTTTGGTTTC	0.373000														13			10		0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30792450	30792450	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:30792450C>T	uc001rjd.3	-	21	2837	c.2489_splice	c.e21+1	p.G830_splice	IPO8_uc010sjt.2_Splice_Site_p.G625_splice|IPO8_uc001rje.1_Splice_Site_p.G319_splice	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	830					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GACACATACCCAAGAAAACAA	0.333000														31			15		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405096	105405096	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:105405096G>A	uc003yly.4	-	7	1488	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	DPYS_uc010mcf.1_Silent_p.F23F	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	453					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCGTGACACTGAACACTCCGG	0.468000														119			85		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997512	146997512	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:146997512G>A	uc010jgo.1	-	17	2456	c.2308C>T	c.(2308-2310)Ctt>Ttt	p.L770F	JAKMIP2_uc003loq.1_Missense_Mutation_p.L770F|JAKMIP2_uc011dbx.1_Missense_Mutation_p.L728F|JAKMIP2_uc003lor.1_Missense_Mutation_p.L749F|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	770						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCCTGAAGAATCTGACAG	0.468000														26			11		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232866	141232866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:141232866C>T	uc002tvj.1	-	59	10438	c.9466G>A	c.(9466-9468)Ggc>Agc	p.G3156S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3156					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAACACGGCCAATATGAGGA	0.368000										TSP Lung(27;0.18)				31			7		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409421	82409421	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:82409421C>T	uc001dit.4	+	5	1347	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.S389F|LPHN2_uc001div.3_Missense_Mutation_p.S389F|LPHN2_uc009wcd.3_Missense_Mutation_p.S389F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	389	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACGATATTCTCTGGAGTTT	0.383000														43			18		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267017	124267017	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:124267017G>A	uc010saj.2	-	0	231	c.231C>T	c.(229-231)ttC>ttT	p.F77F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTTTGGGAGTGAAAACAGAGG	0.368000														26			12		0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41195057	41195057	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:41195057G>T	uc003azc.3	-	1	225	c.85C>A	c.(85-87)Ccc>Acc	p.P29T	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_5'UTR|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Missense_Mutation_p.P29T	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	29					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GTATCCAGGGGAAAAAACACT	0.363000														16			8		0.000157383	0.000158655	1	1	0
LPA	4018	broad.mit.edu	37	6	160977073	160977073	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:160977073C>T	uc003qtl.3	-	30	5077	c.4957G>A	c.(4957-4959)Gaa>Aaa	p.E1653K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4161	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGTAGTTTTCTGGGGTCCTC	0.458000														30			11		0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217955521	217955521	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:217955521C>T	uc001hlh.1	+	7	755	c.729C>T	c.(727-729)ccC>ccT	p.P243P	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	243						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GTCAGGGGCCCTTCCGAGATA	0.448000														23			8		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856152	62856152	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:62856152G>A	uc002jey.2	-	10	4728	c.4112C>T	c.(4111-4113)cCt>cTt	p.P1371L	LRRC37A3_uc010wqg.1_Missense_Mutation_p.P489L|LRRC37A3_uc002jex.1_Missense_Mutation_p.P348L|LRRC37A3_uc010wqf.1_Missense_Mutation_p.P409L|LRRC37A3_uc010dek.1_Missense_Mutation_p.P377L|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1371						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCAGAAAAGGATTTTCTTG	0.388000														34			19		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124745143	124745143	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:124745143G>A	uc001qbc.3	+	13	2379	c.2210G>A	c.(2209-2211)gGg>gAg	p.G737E	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	737	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity	p.G737G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCCCTCCAGGGACCCAAATC	0.592000														57			26		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526456	52526456	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:52526456G>A	uc003ded.4	+	20	4607	c.4473G>A	c.(4471-4473)gaG>gaA	p.E1491E	NISCH_uc003dee.4_Silent_p.E980E|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1491					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GCCAGTGGGAGGCCCTGTGTG	0.662000														42			15		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496372	110496372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:110496372G>A	uc004epc.2	-	3	561	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	124	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGCCAGAAACGAAAGTGAAAT	0.403000														16			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066532	9066532	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:9066532G>A	uc002mkp.3	-	2	21118	c.20914C>T	c.(20914-20916)Ctt>Ttt	p.L6972F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6974	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						ACTTCTGAAAGAACAATACTT	0.463000														54			29		0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10397142	10397142	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:10397142C>T	uc001aqx.4	+	29	3342	c.3140C>T	c.(3139-3141)tCg>tTg	p.S1047L	KIF1B_uc001aqw.4_Missense_Mutation_p.S1001L|KIF1B_uc001aqy.3_Missense_Mutation_p.S1021L|KIF1B_uc001aqz.3_Missense_Mutation_p.S1047L|KIF1B_uc001ara.3_Missense_Mutation_p.S1007L|KIF1B_uc001arb.3_Missense_Mutation_p.S1033L	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1047					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGTGACTTTTCGTCTGTTGCA	0.438000														108			36		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230708	21230708	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:21230708C>T	uc002red.3	-	25	9160	c.9032G>A	c.(9031-9033)gGa>gAa	p.G3011E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3011					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F3010fs*15(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTCCCTTCTCCAAACAGTGC	0.423000														35			16		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108608587	108608587	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:108608587C>T	uc002tdv.3	+	2	480	c.204C>T	c.(202-204)atC>atT	p.I68I	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Silent_p.I68I|SLC5A7_uc010ywn.2_5'UTR	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	68					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.I68I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAGGGTATATCAATGGCACAG	0.458000														27			13		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109535436	109535436	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:109535436G>A	uc010agk.2	+	12	2077	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	MYO16_uc001vqt.1_Silent_p.G463G|MYO16_uc001vqu.1_Silent_p.G263G	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	463	Myosin head-like 1.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTCCTCAGGGAAGCTGTGTT	0.547000														97			43		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35183372	35183372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr21:35183372C>T	uc002yta.1	+	20	2681	c.2413C>T	c.(2413-2415)Cca>Tca	p.P805S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.P684S|ITSN1_uc002ysy.3_Missense_Mutation_p.P800S|ITSN1_uc002ysx.3_Missense_Mutation_p.P763S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.P800S|ITSN1_uc010gmg.3_Missense_Mutation_p.P763S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.P805S|ITSN1_uc010gmi.3_Missense_Mutation_p.P768S|ITSN1_uc002ytb.1_Missense_Mutation_p.P800S|ITSN1_uc002ytc.1_Missense_Mutation_p.P800S|ITSN1_uc010gmk.3_Missense_Mutation_p.P768S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.P800S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.P739S|ITSN1_uc021wip.1_Missense_Mutation_p.P694S|ITSN1_uc002ytf.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	805	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGAGAAAATCCCAGAAAATGA	0.537000														56			23		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103001419	103001419	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:103001419C>T	uc002tbw.4	+	6	920	c.770C>T	c.(769-771)tCg>tTg	p.S257L	IL18R1_uc010ywd.2_Missense_Mutation_p.S102L|IL18R1_uc010fiy.3_Missense_Mutation_p.S257L|IL18R1_uc010ywc.2_Missense_Mutation_p.S257L	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	257	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAAATGGATCGGATCCTAAT	0.313000														26			5		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227385	149227385	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:149227385C>T	uc002twm.4	+	8	2870	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.P66S	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	625						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACCATGTTCCCTCCTACTGC	0.483000														73			21		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132648412	132648412	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:132648412G>A	uc003kyn.1	-	5	879	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	221						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATCGGAGGAGGTCACCTGGT	0.517000														19			6		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31605980	31605980	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:31605980C>T	uc002rnv.1	-	10	1004	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	309	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGGTTTTTTCCACAATGCTC	0.532000														21			9		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176871	8176871	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:8176871G>A	uc002mjf.3	-	29	3968	c.3951C>T	c.(3949-3951)ttC>ttT	p.F1317F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1317	EGF-like 19; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTGACATTCGAAGCCATCCC	0.637000														42			14		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51746690	51746690	+	Missense_Mutation	SNP	G	A	A	rs143196180		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:51746690G>A	uc010hlv.3	+	2	891	c.652G>A	c.(652-654)Gag>Aag	p.E218K	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	218					synaptic transmission	integral to plasma membrane		p.G217G(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CGACTATGGCGAGACAGGCAT	0.592000														37			15		0	0	1	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364455	142364455	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:142364455G>A	uc003vzx.3	+	1	124	c.90G>A	c.(88-90)agG>agA	p.R30R	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_5'Flank|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGGAATAGGATCACAAAGA	0.458000														8			3		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158495667	158495667	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:158495667G>A	uc003qqx.2	+	15	2295	c.2189G>A	c.(2188-2190)cGc>cAc	p.R730H	SYNJ2_uc003qqw.2_Missense_Mutation_p.R730H|SYNJ2_uc003qqy.2_Missense_Mutation_p.R493H|SYNJ2_uc003qqz.2_Missense_Mutation_p.R347H|SYNJ2_uc003qra.2_Missense_Mutation_p.R73H	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	730							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCAACTACCGCATTGATCTT	0.358000														31			3		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323763	31323763	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:31323763C>T	uc010dmg.1	+	11	4006	c.3951C>T	c.(3949-3951)tcC>tcT	p.S1317S	ASXL3_uc002kxq.2_Silent_p.S1024S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1317	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TATCAAGCTCCATGGATGATA	0.458000														54			30		0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026115	57026115	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:57026115C>T	uc011leb.2	-	0	427	c.427G>A	c.(427-429)Ggc>Agc	p.G143S		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	143	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GTGACGTTGCCACCGAACTCC	0.627000														102			65		0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118765155	118765155	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:118765155C>T	uc001pue.4	+	1	1078	c.902C>T	c.(901-903)cCc>cTc	p.P301L	CXCR5_uc001puf.3_Missense_Mutation_p.P256L	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	301					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGCTCTCTCCCCGTGGCCATC	0.597000														57			12		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160886667	160886667	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:160886667G>A	uc003lys.1	-	4	639	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.R141C|GABRB2_uc003lyt.1_Missense_Mutation_p.R141C|GABRB2_uc021yhg.1_Missense_Mutation_p.R78C|GABRB2_uc011dei.1_Missense_Mutation_p.R141C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity	p.R141C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGATGCAGGCGAATCATGCGG	0.448000														25			7		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824280	54824280	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:54824280C>T	uc002xxb.2	+	0	493	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	164					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCATCTCCCTGGTGGCCT	0.557000														40			30		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	887207	887207	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:887207G>A	uc003gbm.4	-	8	1147	c.948C>T	c.(946-948)atC>atT	p.I316I	GAK_uc003gbn.4_Silent_p.I237I|GAK_uc010ibk.1_Silent_p.I210I|GAK_uc003gbl.4_Silent_p.I180I	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	316					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGGCCGCGATCTCCTGCA	0.667000														28			13		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952953	119952953	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:119952953C>T	uc010inb.3	+	3	3219	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L	SYNPO2_uc010ina.3_Missense_Mutation_p.P1008L|SYNPO2_uc003icm.4_Missense_Mutation_p.P1008L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P936L|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	1008						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTCTTCCTCCCCGGCCAGTG	0.542000														32			7		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075955	66075955	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:66075955G>A	uc001dci.3	+	13	2360	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	LEPR_uc001dcg.3_Silent_p.E657E|LEPR_uc001dch.3_Silent_p.E657E|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.E657E|LEPR_uc001dcj.3_Silent_p.E657E|LEPR_uc001dck.3_Silent_p.E657E	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	657	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGAAAAAGGAGAAAAATGTCA	0.279000														23			3		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137330502	137330502	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:137330502G>A	uc003qhj.3	-	3	964	c.531C>T	c.(529-531)tcC>tcT	p.S177S	IL20RA_uc011edl.2_Silent_p.S128S|IL20RA_uc003qhk.3_Silent_p.S66S|IL20RA_uc010kgy.1_Non-coding_Transcript|IL20RA_uc003qhi.3_5'Flank	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	177	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		ACTTCAGATTGGAGTATATTT	0.408000														25			11		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099745	110099745	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:110099745G>A	uc003ymz.4	+	0	93	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	2						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCTAAAGATGGAAAACGAGAC	0.458000														47			12		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187986	152187986	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152187986G>A	uc001ezt.1	-	2	6195	c.6119C>T	c.(6118-6120)tCc>tTc	p.S2040F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2040					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGTGGCTGGAAGACTGACC	0.587000														476			29		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812490	52812490	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:52812490C>T	uc003dfs.3	+	2	303	c.273C>T	c.(271-273)atC>atT	p.I91I	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'Flank|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	91	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACCTGGAAATCCCCAAGACAG	0.547000														35			4		0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35219318	35219318	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:35219318G>A	uc001ziv.3	-	12	1217	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	346						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TAGAGTTCAGGAAAATGTGCA	0.313000														17			4		0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99924781	99924781	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:99924781G>A	uc001ygc.3	-	5	680	c.510C>T	c.(508-510)tcC>tcT	p.S170S	SETD3_uc001ygd.3_Silent_p.S170S|SETD3_uc021sbn.1_Silent_p.S170S|SETD3_uc001ygf.3_Silent_p.S170S	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	170	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GCTGCCAGAAGGAGTTAGGGC	0.468000														29			13		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228466596	228466596	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:228466596G>A	uc009xez.1	+	25	7110	c.7066G>A	c.(7066-7068)Gag>Aag	p.E2356K	OBSCN_uc001hsn.3_Missense_Mutation_p.E2356K|OBSCN_uc001hsp.1_Missense_Mutation_p.E55K|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2356	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCAGAGGACGAGGACACCTA	0.587000														30			12		0	0	1	0	0
AEBP2	121536	broad.mit.edu	37	12	19646785	19646785	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:19646785C>T	uc001ref.2	+	3	1065	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	AEBP2_uc001ree.2_Missense_Mutation_p.R347C|AEBP2_uc001reg.1_Missense_Mutation_p.R118C	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	Homo sapiens AE binding protein 2 (AEBP2), transcript variant 2, mRNA.	347					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGGGCTAGCTCGTCATGTACC	0.458000														14			4		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452084	41452084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr21:41452084C>T	uc002yyq.1	-	24	4867	c.4415G>A	c.(4414-4416)gGa>gAa	p.G1472E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1472					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTACCTTTTCCTAAGGTCTT	0.418000														90			25		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235950601	235950601	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:235950601G>A	uc001hxj.2	-	13	4936	c.4761C>T	c.(4759-4761)ttC>ttT	p.F1587F	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1587					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTTGGGAGGAAAATATTCT	0.423000														57			17		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160128	132160128	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:132160128A>C	uc011mvf.2	-	0	2173	c.2121T>G	c.(2119-2121)ttT>ttG	p.F707L	USP26_uc010nrm.1_Missense_Mutation_p.F707L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	707					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CAAAAGCTACAAACTTACTGG	0.373000														9			19		0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7687455	7687455	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:7687455G>A	uc002mgx.3	-	10	1490	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	488					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	p.A488T(1)		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						CGGCGAGCATGGACCAGACCT	0.662000								Direct reversal of damage;Nucleotide excision repair (NER)						41			17		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101056353	101056353	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:101056353G>A	uc003dut.3	-	17	2591	c.2480_splice	c.e17+1	p.S827_splice	SENP7_uc003duu.3_Splice_Site_p.S762_splice|SENP7_uc003duv.3_Splice_Site_p.S794_splice|SENP7_uc003duw.3_Splice_Site_p.S761_splice|SENP7_uc003dux.3_Splice_Site_p.S663_splice	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	827	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.S761L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTAACTTACGAAAGATTTGG	0.299000														13			3		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239944	3239945	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:3239944_3239945GG>AA	uc004crg.4	-	4	3938_3939	c.3781_3782CC>TT	c.(3781-3783)cca>TTa	p.P1261L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1261						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTATTTTCTGGAGAAGGGCTG	0.450000														25			30		0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39139369	39139369	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:39139369C>T	uc010cxh.1	-	3	620	c.459G>A	c.(457-459)acG>acA	p.T153T	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	153	Coil 1B.|Rod.		T -> M (in dbSNP:rs9908304).			intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCTCTGCTTTCGTGCATAAGA	0.333000														75			17		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521722	39521722	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:39521722G>A	uc002hwl.3	-	3	717	c.672C>T	c.(670-672)gtC>gtT	p.V224V		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	224	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCTCGTTCAGGACCTGGTTCA	0.592000														20			9		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14526459	14526459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:14526459G>A	uc010heg.3	+	14	2106	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	SLC6A6_uc003byq.3_Missense_Mutation_p.V603I|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	603					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTCTCGCACCGTCATGAACGG	0.592000														14			6		0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279581	73279581	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:73279581C>T	uc003tzk.2	+	1	367	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	WBSCR28_uc003tzl.2_Silent_p.L10L	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	111						integral to membrane		p.G110G(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGGCCTGGGCCTGGCCTTGCT	0.627000														46			10		0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111714530	111714530	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:111714530C>T	uc004bdo.1	-	13	1836	c.1794G>A	c.(1792-1794)cgG>cgA	p.R598R	CTNNAL1_uc010mts.1_Silent_p.R250R|CTNNAL1_uc004bdp.1_Silent_p.R598R	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	598					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TGGACATGTTCCGTCCATATT	0.363000														13			4		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216692521	216692521	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:216692521G>A	uc001hkw.2	-	5	1278	c.1105C>T	c.(1105-1107)Ctc>Ttc	p.L369F	ESRRG_uc009xdp.1_Missense_Mutation_p.L346F|ESRRG_uc001hky.1_Missense_Mutation_p.L346F|ESRRG_uc001hkz.2_Missense_Mutation_p.L307F|ESRRG_uc010puc.2_Missense_Mutation_p.L346F|ESRRG_uc001hla.2_Missense_Mutation_p.L346F|ESRRG_uc001hlb.2_Missense_Mutation_p.L346F|ESRRG_uc010pud.2_Missense_Mutation_p.L184F|ESRRG_uc021pja.1_Missense_Mutation_p.L118F|ESRRG_uc001hlc.1_Missense_Mutation_p.L346F|ESRRG_uc001hld.1_Missense_Mutation_p.L346F|ESRRG_uc001hkx.2_Missense_Mutation_p.L381F|ESRRG_uc009xdo.2_Missense_Mutation_p.L346F|ESRRG_uc001hle.2_Missense_Mutation_p.L346F|ESRRG_uc021piz.1_Missense_Mutation_p.L346F	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	369					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATAGCTTTGAGGGTGACAAAT	0.368000														18			7		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:39296167A>G	uc010cxk.2	-	0	573	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000														9			5		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28539994	28539994	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:28539994C>T	uc003nlo.3	-	3	4290	c.3672G>A	c.(3670-3672)caG>caA	p.Q1224Q		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1224					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						acaacttatcctgtagagtta	0.323000														16			4		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83947449	83947449	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:83947449C>T	uc003pjy.3	-	8	1278	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	ME1_uc011dzb.2_Missense_Mutation_p.G263E|ME1_uc011dzc.2_Missense_Mutation_p.G172E	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	338					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AACTATTAATCCTTTTGAATC	0.388000														1			5		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099620	142099620	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:142099620C>T	uc003vyz.1	-	1	182	c.182G>A	c.(181-183)gGg>gAg	p.G61E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.G61E					SubName: Full=Uncharacterized protein;																		AAACTCTGGCCCCTGCCCCAG	0.512000														58			7		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328761	152328761	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152328761G>A	uc001ezw.4	-	2	1574	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	501	Ser-rich.						calcium ion binding|structural molecule activity	p.G500S(1)		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)			CCAGAGGACTGACCTGAGCCT	0.532000														135			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745583	140745583	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:140745583C>T	uc003lju.2	+	0	1686	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	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_uc011das.2_Silent_p.I562I	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	564	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)			CGCCTGAGATCCTGTACCCCG	0.622000														105			38		0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96232550	96232550	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:96232550T>A	uc003kmq.3	+	8	2196	c.1486T>A	c.(1486-1488)Tgg>Agg	p.W496R	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.W496R|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.W445R|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	496					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGATGACTTGTGGAGCAGTCT	0.323000														28			10		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125521	34125521	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:34125521A>C	uc011kap.2	+	13	1936	c.1562A>C	c.(1561-1563)gAc>gCc	p.D521A		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	521	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GATGTGGATGACTTTGCTGAA	0.463000														38			26		0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40874902	40874903	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:40874902_40874903GG>AA	uc010wgu.2	-	4	451_452	c.415_416CC>TT	c.(415-417)ccc>TTc	p.P139F	EZH1_uc002iaz.3_Missense_Mutation_p.P133F|EZH1_uc002iba.3_Missense_Mutation_p.P124F|EZH1_uc010wgt.2_Missense_Mutation_p.P63F|EZH1_uc010wgv.2_Missense_Mutation_p.P93F|EZH1_uc010wgw.2_Intron|EZH1_uc010cyp.2_Intron|EZH1_uc010cyq.2_Missense_Mutation_p.P50F|EZH1_uc010cys.2_Missense_Mutation_p.P84F|EZH1_uc010cyo.1_5'UTR|EZH1_uc010cyr.1_5'Flank	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	133					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCCCATGTAGGGAATATTGCAC	0.396000														66			16		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473417	2473417	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:2473417C>T	uc003smc.3	+	1	1306	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	CHST12_uc003smd.3_Silent_p.F381F|CHST12_uc021zyu.1_Silent_p.F381F|CHST12_uc021zyv.1_Silent_p.F381F	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	381					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.W380L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		AGGACTGGTTCGCCAAGATCC	0.637000														32			22		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241395	3241395	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:3241395C>T	uc004crg.4	-	4	2488	c.2331G>A	c.(2329-2331)caG>caA	p.Q777Q		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	777						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCGGATTAATCTGTTTGTTTG	0.448000														23			14		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117387190	117387190	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:117387190G>A	uc001prh.1	-	7	1957	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	592	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.V651I(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACCTTTGACGGCTACGTGAAC	0.622000														27			6		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18069781	18069781	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:18069781G>A	uc021trm.1	+	59	10113	c.9894G>A	c.(9892-9894)tgG>tgA	p.W3298*	MYO15A_uc021trl.1_Nonsense_Mutation_p.W3296*|MYO15A_uc010vxi.2_Nonsense_Mutation_p.W562*|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Nonsense_Mutation_p.W287*|MYO15A_uc002gsl.3_Nonsense_Mutation_p.W305*|MYO15A_uc010vxm.2_Intron|MYO15A_uc010cpv.3_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3298	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGTGCTCTGGGATCAGCCAC	0.567000														78			28		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229024	8229024	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:8229024G>A	uc003gkv.4	+	11	1704	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	SH3TC1_uc003gkw.4_Missense_Mutation_p.D459N|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	535							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCTTCAGCGACGAGGAGGA	0.682000														23			11		0	0	1	0	0
SLC25A51	92014	broad.mit.edu	37	9	37888004	37888005	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:37888004_37888005GG>AA	uc022bgx.1	-	0	543_544	c.543_544CC>TT	c.(541-546)ttccgg>ttTTgg	p.R182W	SLC25A51_uc004aaq.1_Intron|SLC25A51_uc004aar.1_Intron|DQ590189_uc004aat.2_5'Flank|SLC25A51_uc004aav.2_Missense_Mutation_p.R182W	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	Homo sapiens mitochondrial carrier triple repeat 1 (MCART1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					transport	integral to membrane|mitochondrial inner membrane		p.R182W(1)									AGTCCATTCCGGAAAAGAATGG	0.455000														27			19		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286637	71286637	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:71286637T>A	uc001swi.2	-	1	593	c.179A>T	c.(178-180)aAa>aTa	p.K60I		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	60					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCTGTAGATTTTTTGTGGGGC	0.423000														55			33		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120160	21120160	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:21120160G>A	uc001iqi.3	-	15	2033	c.1636C>T	c.(1636-1638)Ctt>Ttt	p.L546F	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	546					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTGGCTCGAAGGATATCTGGG	0.373000														19			21		0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2093626	2093626	+	Silent	SNP	A	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:2093626A>T	uc002col.1	-	3	670	c.651T>A	c.(649-651)gtT>gtA	p.V217V	TCRBV20S1_uc021tak.1_Intron	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	217					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						TCTTGGGCCCAACACCCGGCA	0.647000								Base excision repair (BER), DNA glycosylases						27			3		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189321	58189321	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:58189321G>A	uc002qpu.3	+	3	1133	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	146					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCTTTTCTGAGGATATGCC	0.453000														33			13		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927515	55927515	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:55927515G>A	uc010rja.2	-	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGCATAATAGGAAATAGTAT	0.398000														43			19		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035894	110035894	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:110035894C>T	uc010rwc.2	+	5	2087	c.2087C>T	c.(2086-2088)cCa>cTa	p.P696L	ZC3H12C_uc009yxw.3_Missense_Mutation_p.P695L|ZC3H12C_uc010rwd.2_Missense_Mutation_p.P696L|ZC3H12C_uc001pkr.4_Missense_Mutation_p.P664L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	695							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)		CACGAAGAACCAAAGTTCCAT	0.582000														135			61		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12376356	12376356	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:12376356C>T	uc001mkg.1	+	7	2146	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	619					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ATTAGAAGATCATCAAAGCAG	0.428000														8			3		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773440	137773440	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:137773440G>A	uc003vtz.3	+	1	274	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Missense_Mutation_p.E63K|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Missense_Mutation_p.E63K|AKR1D1_uc011kqe.1_Missense_Mutation_p.E63K|RN7SK_uc022amj.1_5'Flank	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	63					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AAATGAACACGAAGTTGGGGA	0.502000														17			3		0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48845901	48845901	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:48845901G>A	uc002pix.1	-	5	870	c.861C>T	c.(859-861)gtC>gtT	p.V287V	TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Silent_p.V222V|TMEM143_uc010elw.1_Silent_p.V187V|TMEM143_uc010xzo.1_Silent_p.V77V|TMEM143_uc002piy.1_Silent_p.V252V|Mir_324_uc021uws.1_5'Flank	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	287						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCACGCCGGAGACTACCAGCA	0.652000														32			15		0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149562428	149562428	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:149562428C>T	uc003lrq.3	+	1	639	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCACAATCCGGCGGAAAT	0.557000														84			22		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149694	63149694	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:63149694G>A	uc001nww.3	+	5	1286	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	340					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTCTCTGTGTGAAATGCTCCA	0.398000														57			20		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044747	56044747	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:56044747G>A	uc003pcs.3	-	2	501	c.269C>T	c.(268-270)cCt>cTt	p.P90L	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.P90L|COL21A1_uc003pcu.1_Missense_Mutation_p.P90L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	90	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTTCCGAGAGGAATCTCCAG	0.438000														10			7		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73015526	73015526	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:73015526G>A	uc001sxa.3	+	14	2565	c.2535G>A	c.(2533-2535)agG>agA	p.R845R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	845					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						CCAGCAACAGGAACAGGTAAA	0.393000														24			5		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671390	31671390	+	Silent	SNP	A	G	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:31671390A>G	uc010zue.2	+	2	402	c.387A>G	c.(385-387)gcA>gcG	p.A129A		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	129						cytoplasm|extracellular region	lipid binding										CCGAGAATGCATATGGAGGCC	0.607000														80			15		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042636	74042636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:74042636G>A	uc002sjr.1	+	2	1407	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	429										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAGGACCAAGGGATATTTGAA	0.478000														15			5		0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975556	152975556	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152975556G>A	uc021ozo.1	+	0	60	c.60G>A	c.(58-60)caG>caA	p.Q20Q	SPRR3_uc001fax.4_Silent_p.Q20Q|SPRR3_uc001faz.4_Silent_p.Q20Q|SPRR3_uc001fay.2_Silent_p.Q20Q	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	20					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCAGCAGGTGAAACAAC	0.488000														37			14		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759218	6759218	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:6759218G>A	uc002wmu.1	+	2	1458	c.673G>A	c.(673-675)Gga>Aga	p.G225R		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	225					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CGCCAACCATGGATTCGTGGT	0.522000														24			8		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170003411	170003411	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:170003411C>T	uc002ues.3	-	68	12862	c.12649G>A	c.(12649-12651)Gga>Aga	p.G4217R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4217					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGGTCCTCTCCATTCATCCAG	0.453000														16			6		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34320693	34320693	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:34320693C>T	uc021uiv.1	+	20	3748	c.3651C>T	c.(3649-3651)atC>atT	p.I1217I	FHOD3_uc002kzs.1_Silent_p.I1042I|FHOD3_uc002kzt.1_Silent_p.I1025I|FHOD3_uc010dmz.1_Silent_p.I757I|FHOD3_uc010dnb.1_Silent_p.I21I	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1025	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCCTGAAATCCCCCTGGGCA	0.483000														14			5		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519297	48519297	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:48519297G>A	uc002pht.3	+	4	533	c.355_splice	c.e4+1	p.E119_splice		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	119					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GAAACGAATGGTGAGCCCCTG	0.562000														33			9		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876283	74876283	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:74876283C>T	uc001xpx.2	-	1	413	c.165G>A	c.(163-165)ctG>ctA	p.L55L		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	55					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						ACCCTGGGTCCAGGAGCTGGT	0.677000														17			9		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92171010	92171010	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:92171010G>A	uc001xzs.1	-	6	642	c.502C>T	c.(502-504)Cca>Tca	p.P168S		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	168					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCACTTTCTGGAATCACATCC	0.418000														32			13		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807702	86807702	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:86807702C>T	uc002blz.1	+	9	1242	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S	AGBL1_uc002bma.1_Missense_Mutation_p.P119S|AGBL1_uc002bmb.1_Missense_Mutation_p.P82S	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	388					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.P388S(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAAAAAAATCCTGGAGTGAA	0.478000														16			11		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40660900	40660900	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:40660900G>A	uc001zlk.1	+	7	2676	c.2587G>A	c.(2587-2589)Gac>Aac	p.D863N		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	863					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGGCCACTCGGACTTCCCCTG	0.662000														37			8		0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207346	135207346	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:135207346C>T	uc003laz.1	+	4	790	c.618C>T	c.(616-618)atC>atT	p.I206I	SLC25A48_uc003lba.3_Intron			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	206					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GTGAGTGGATCACACCTGAGG	0.667000														41			11		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					39			26		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070173	114070173	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:114070173G>A	uc003ebi.3	-	3	932	c.752C>T	c.(751-753)tCc>tTc	p.S251F	ZBTB20_uc003ebj.3_Missense_Mutation_p.S178F|ZBTB20_uc010hqp.3_Missense_Mutation_p.S178F|ZBTB20_uc003ebk.3_Missense_Mutation_p.S178F|ZBTB20_uc003ebl.3_Missense_Mutation_p.S178F|ZBTB20_uc003ebm.3_Missense_Mutation_p.S178F|ZBTB20_uc003ebn.3_Missense_Mutation_p.S178F|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ATTCTGCATGGAGCACGCGTA	0.647000														54			19		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898851	37898852	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:37898851_37898852CC>TT	uc002hsr.3	+	2	463_464	c.188_189CC>TT	c.(187-189)tcc>tTT	p.S63F	GRB7_uc002hss.3_Missense_Mutation_p.S63F|GRB7_uc021twu.1_Missense_Mutation_p.S86F|GRB7_uc010cwc.3_Missense_Mutation_p.S63F|GRB7_uc002hst.3_Missense_Mutation_p.S63F	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	63					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTGCCACCTCCCTCCCCTCTA	0.624000														106			20		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11660882	11660882	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:11660882G>A	uc002gne.3	+	34	6936	c.6868G>A	c.(6868-6870)Gca>Aca	p.A2290T	DNAH9_uc010coo.3_Missense_Mutation_p.A1584T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2290	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATCAACCCGGCAGACTTGGG	0.433000														40			3		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679467	43679467	+	Silent	SNP	G	A	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:43679467G>A	uc002ovu.3	-	3	995	c.864C>T	c.(862-864)atC>atT	p.I288I	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.I288I	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	288	Ig-like C2-type 2.			I -> M (in Ref. 3; AAA36514).	female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TAATTTGGGGGATAGAGAGCT	0.448000														136			41		0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24747815	24747815	+	Silent	SNP	C	T	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:24747815C>T	uc010kus.1	-	6	1009	c.921G>A	c.(919-921)caG>caA	p.Q307Q	DFNA5_uc003sxa.1_Silent_p.Q307Q|DFNA5_uc010kut.1_Silent_p.Q143Q	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	307					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCAAAGCTGTCTGTTGTGGCT	0.512000														22			11		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14281228	14281228	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:14281228delG	uc001mle.3	+	13	2077	c.1809delG	c.(1807-1809)aagfs	p.K603fs		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	604	TSP type-1 3.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGGCAGAGAAGTGCATGATGC	0.602													---	4	---	---	2	---					
EP400	57634	broad.mit.edu	37	12	132445252	132445253	+	Frame_Shift_Ins	INS	-	C	C	rs71453134		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:132445252_132445253insC	uc001ujn.3	+	1	240_241	c.88_89insC	c.(88-90)gccfs	p.A30fs	EP400_uc021rgq.1_Frame_Shift_Ins_p.A30fs|EP400_uc001ujm.3_Frame_Shift_Ins_p.A30fs|EP400_uc001ujj.2_Frame_Shift_Ins_p.A30fs|EP400_uc001ujk.3_Frame_Shift_Ins_p.A30fs	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	30					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGAGCAGCCGGCCCACCCCAAC	0.649													---	4	---	---	2	---