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
MET	4233	broad.mit.edu	37	7	116403126	116403126	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:116403126C>A	uc003vij.3	+	10	2574	c.2387C>A	c.(2386-2388)tCa>tAa	p.S796*	MET_uc022akk.1_Nonsense_Mutation_p.S796*|MET_uc010lkh.3_Nonsense_Mutation_p.S814*|MET_uc011knh.1_Missense_Mutation_p.Q763K|MET_uc011kni.2_Nonsense_Mutation_p.S796*|MET_uc011knj.2_Nonsense_Mutation_p.S366*	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	796	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGCTCTAATTCAGAGATAATC	0.413000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					107			106		7.82945e-61	8.03081e-61	1	1	0
SRPX	8406	broad.mit.edu	37	X	38020250	38020250	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:38020250G>A	uc004ddy.2	-	5	843	c.711C>T	c.(709-711)atC>atT	p.I237I	SRPX_uc011mki.2_Silent_p.I237I|SRPX_uc004ddz.2_Silent_p.I217I|SRPX_uc011mkh.2_Silent_p.I178I	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	237	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTGTGTACTGGATCTTGTGGT	0.418000														23			68		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641352	36641352	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:36641352G>A	uc002xhl.3	-	2	1076	c.867C>T	c.(865-867)atC>atT	p.I289I	TTI1_uc002xhm.3_Silent_p.I289I	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	289							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTTTAATAAGGATAGTCAACT	0.443000														212			113		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391067	125391067	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:125391067G>A	uc011lyz.2	-	0	748	c.748C>T	c.(748-750)Cac>Tac	p.H250Y		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S249P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ATGGTGAGGTGGGATCCACAG	0.532000														95			42		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166904178	166904178	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:166904178G>A	uc002udo.4	-	9	1356	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.R377*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.R377*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	377			R -> Q (in GEFS+2; dbSNP:rs121917957).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R377*(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTCATTAGTCGAAACAAGGAC	0.388000														118			69		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773453	141773453	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:141773453C>T	uc002tvj.1	-	12	2974	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	668					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)		TCATCTATTTCATCTTCCTCC	0.408000										TSP Lung(27;0.18)				123			73		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80726795	80726795	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:80726795G>A	uc001szd.3	+	36	4338	c.4332G>A	c.(4330-4332)atG>atA	p.M1444I		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGGGAAATGATTACTCCAT	0.363000														5			17		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414316	20414316	+	Silent	SNP	G	A	A	rs62640391		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:20414316G>A	uc003zoe.2	-	4	787	c.528C>T	c.(526-528)agC>agT	p.S176S	MLLT3_uc011lne.1_Silent_p.S144S|MLLT3_uc011lnf.1_Silent_p.S173S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	176	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctactgctgctgctgctgc	0.522000			T	MLL	ALL									151			5		0	0	1	0	0
RHBDL1	9028	broad.mit.edu	37	16	727788	727788	+	Silent	SNP	C	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:727788C>A	uc002cis.1	+	6	1080	c.1053C>A	c.(1051-1053)tcC>tcA	p.S351S	RHBDL1_uc002cir.1_Silent_p.S286S|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	351					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CAGTGAGCTCCGAGGTGGGCC	0.756000														18			10		0.0581538	0.0584989	1	1	0
BRAT1	221927	broad.mit.edu	37	7	2583261	2583261	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:2583261C>T	uc003smi.3	-	4	1054	c.766G>A	c.(766-768)Gca>Aca	p.A256T	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_Missense_Mutation_p.A81T|BRAT1_uc003smj.2_Missense_Mutation_p.A256T	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	256					response to ionizing radiation	nucleus	protein binding	p.A256T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AACGAGTGTGCGGCGGGGATG	0.692000														283			5		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6669885	6669885	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:6669885C>T	uc002mfk.2	-	1	578	c.196G>A	c.(196-198)Gga>Aga	p.G66R	TNFSF14_uc002mfj.2_Intron	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	66					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCATCTCTCCTAGACGCCAG	0.662000														90			68		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128297904	128297904	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:128297904C>T	uc003qbk.3	-	26	4231	c.3864G>A	c.(3862-3864)gaG>gaA	p.E1288E	PTPRK_uc010kfc.3_Silent_p.E1295E|PTPRK_uc003qbj.3_Silent_p.E1289E|PTPRK_uc011ebu.2_Silent_p.E1311E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1288	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCATCCCTTCCTCTGGCCAGT	0.378000														54			20		0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455638	72455638	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:72455638C>T	uc002atq.3	-	9	949	c.925G>A	c.(925-927)Gat>Aat	p.D309N	GRAMD2_uc010bis.2_Missense_Mutation_p.D309N|GRAMD2_uc010ukh.2_Missense_Mutation_p.D103N	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	309						integral to membrane		p.W308*(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AGCCGGTAATCCCAGAGCCTC	0.557000														73			43		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31524590	31524590	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:31524590G>A	uc003aju.4	+	8	2235	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	INPP5J_uc003ajw.3_Missense_Mutation_p.E151K|INPP5J_uc003ajt.4_Missense_Mutation_p.E347K|INPP5J_uc003ajv.4_Missense_Mutation_p.E348K|INPP5J_uc003ajs.4_Missense_Mutation_p.E348K|INPP5J_uc011alk.2_Missense_Mutation_p.E648K|INPP5J_uc010gwg.3_Missense_Mutation_p.E280K	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	715	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAGCCACATGGAATACACAGT	0.617000														123			74		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553980	140553980	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140553980G>A	uc003lit.3	+	0	1738	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	522	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGACTACGAGGCCCTGCA	0.711000														191			106		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288788	17288788	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:17288788C>T	uc002zlv.3	-	1	274	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	XKR3_uc011agf.2_Missense_Mutation_p.R59Q	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	59						integral to membrane|plasma membrane		p.R59Q(2)|p.R59*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATTAGCTTTTCGATAAATTTC	0.368000														82			47		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124315246	124315246	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:124315246G>A	uc001uft.4	+	25	4216	c.4191_splice	c.e25+1	p.K1397_splice		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1397	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCATTGAGAAGGTAAGACTTC	0.348000														10			34		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673818	4673818	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:4673818C>T	uc021qcq.1	+	0	62	c.62C>T	c.(61-63)cCt>cTt	p.P21L	OR51E1_uc001lzi.4_Missense_Mutation_p.P21L	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGGCCTCCCTGGTTTAGAA	0.488000														332			81		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274136	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:45274136G>A	uc001myq.2	-	3	808	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	SYT13_uc009yku.1_Missense_Mutation_p.P84S	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	228	C2 1.					transport vesicle		p.P228T(2)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGG	0.682000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			97		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153493002	153493002	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:153493002G>A	uc002tye.3	+	21	3109	c.2742G>A	c.(2740-2742)aaG>aaA	p.K914K	FMNL2_uc010fob.3_Silent_p.K370K|FMNL2_uc002tyf.3_Silent_p.K363K	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	914	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACTTGACCAAGAGAGAGTACA	0.488000														20			14		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601920	43601920	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:43601920G>A	uc001jal.3	+	4	1154	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RET_uc001jak.1_Missense_Mutation_p.D322N|RET_uc010qez.1_Missense_Mutation_p.D68N	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	322					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCTCCCCGGGGACACCTGGGC	0.652000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					34			16		0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100455446	100455446	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:100455446C>T	uc003duf.3	+	5	792	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	TFG_uc003due.3_Missense_Mutation_p.R203C|TFG_uc003dug.3_Missense_Mutation_p.R203C|TFG_uc003dui.3_Missense_Mutation_p.R203C	NM_001007565	NP_006061	Q92734	TFG_HUMAN	Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA.	203					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGCAGAAGATCGTTCAGGAAC	0.527000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""									85			40		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229725	87229725	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:87229725C>T	uc003ydq.1	-	2	1251	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	SLC7A13_uc003ydr.1_Missense_Mutation_p.E376K	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	385						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGATTGGGTTCCTGGTATCTC	0.274000														25			26		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219626	26219626	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:26219626G>A	uc003abz.1	+	12	2926	c.2676G>A	c.(2674-2676)gaG>gaA	p.E892E	MYO18B_uc003aca.1_Silent_p.E773E|MYO18B_uc010guy.1_Silent_p.E773E|MYO18B_uc010guz.1_Silent_p.E773E|MYO18B_uc011aka.1_Silent_p.E46E|MYO18B_uc011akb.1_Silent_p.E405E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	892	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGGCCTCGAGGATGAGGAAA	0.577000														308			136		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746158	140746158	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140746158C>T	uc003lju.2	+	0	2261	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	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_Missense_Mutation_p.S754F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	760					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D754D(1)		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)			CAGACCTATTCCCACGAGGTC	0.597000														221			103		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194061864	194061864	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:194061864C>T	uc003fts.3	-	1	1658	c.1568G>A	c.(1567-1569)tGg>tAg	p.W523*	CPN2_uc021xix.1_Nonsense_Mutation_p.W523*	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	523					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCTCAGGTCCCACTCCTGACT	0.642000														34			26		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109349	36109349	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:36109349C>T	uc002oam.1	+	10	918	c.867C>T	c.(865-867)tcC>tcT	p.S289S		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	289					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCCTGCCGTCCATGGTTCATC	0.632000														95			56		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586468	20586468	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:20586468C>T	uc001vwo.1	+	0	903	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TAGATAAGTTCCTTGCTGTGT	0.398000														47			22		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497581	52497581	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:52497581G>A	uc002pyf.2	-	6	1098	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.H250Y|ZNF615_uc002pyh.2_Missense_Mutation_p.H261Y|ZNF615_uc010epi.2_Missense_Mutation_p.H257Y|ZNF615_uc002pyg.2_Missense_Mutation_p.H142Y|ZNF615_uc010ydg.2_Missense_Mutation_p.H255Y	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTTCTCTGATGGTCCATTAGT	0.378000														154			65		0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70330749	70330749	+	Silent	SNP	A	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:70330749A>G	uc004dyw.2	-	1	359	c.267T>C	c.(265-267)taT>taC	p.Y89Y	IL2RG_uc004dyv.2_5'Flank|IL2RG_uc004dyx.2_Intron	NM_000206	NP_000197	P31785	IL2RG_HUMAN	Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	89			Y -> C (in XSCID).		immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	p.Y89F(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TCTCATACCAATAATGCAGAG	0.522000									Severe Combined Immunodeficiency, X-linked					36			3		0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	T	T	rs76309140		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:97869931A>T	uc010yva.2	+	49	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000														20			4		0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102292829	102292829	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:102292829C>G	uc010usj.2	+	3	476	c.417C>G	c.(415-417)caC>caG	p.H139Q	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597000														65			3		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24177773	24177773	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:24177773G>A	uc003xdy.3	+	6	684	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	ADAM28_uc003xdx.3_Missense_Mutation_p.E201K|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	201					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAGGTTCAGGAACATGAGAA	0.308000														118			50		0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	C	C	rs141357429	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000														45			7		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18631182	18631182	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:18631182C>T	uc003sui.3	+	3	500	c.459C>T	c.(457-459)ttC>ttT	p.F153F	HDAC9_uc003sue.3_Silent_p.F150F|HDAC9_uc011jyd.2_Silent_p.F150F|HDAC9_uc003suh.3_Silent_p.F150F|HDAC9_uc003suj.3_Silent_p.F153F|HDAC9_uc011jya.2_Silent_p.F192F|HDAC9_uc003sua.1_Silent_p.F172F|HDAC9_uc003sud.2_Silent_p.F150F|HDAC9_uc011jyc.2_Silent_p.F153F|HDAC9_uc011jyb.2_Silent_p.F150F|HDAC9_uc003suf.2_Silent_p.F181F|HDAC9_uc010kud.2_Silent_p.F153F|HDAC9_uc011jye.2_Silent_p.F122F|HDAC9_uc011jyf.2_Silent_p.F119F|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	150	Interaction with MEF2 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCAAGAGTTCCTACTGAGTA	0.453000														66			11		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513100	99513100	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:99513100G>A	uc003dti.1	+	2	486	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.E119K|COL8A1_uc003dth.1_Missense_Mutation_p.E119K	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	119	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII		p.E119E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TTTACGAGGGGAACAAGGTCC	0.527000														31			17		0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463768	241463768	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:241463768G>A	uc010fzd.1	-	7	1491	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	ANKMY1_uc002vzb.1_Missense_Mutation_p.L226F|ANKMY1_uc002vzc.1_Missense_Mutation_p.L226F|ANKMY1_uc002vyz.1_Missense_Mutation_p.L367F|ANKMY1_uc002vza.1_Missense_Mutation_p.L226F|ANKMY1_uc002vzd.1_Missense_Mutation_p.L226F|ANKMY1_uc010fze.2_Missense_Mutation_p.L36F|ANKMY1_uc002vze.3_Missense_Mutation_p.L128F	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	367							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GATGATGAAAGGATTGGAACA	0.443000														76			37		0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621447	99621447	+	Silent	SNP	C	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:99621447C>A	uc003usk.1	+	1	537	c.318C>A	c.(316-318)tcC>tcA	p.S106S	ZKSCAN1_uc003usj.3_Silent_p.S105S|ZKSCAN1_uc003usl.1_Silent_p.S70S|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	106	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTTTCTTTCCATCCTGCCCA	0.532000														168			63		4.45325e-31	4.53349e-31	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13764735	13764735	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:13764735G>A	uc001rbt.2	-	7	1883	c.1704C>T	c.(1702-1704)atC>atT	p.I568I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	568					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGCTGAGACGATGAGCAGCA	0.522000														119			59		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6924748	6924748	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:6924748C>T	uc002mfw.3	+	14	1889	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	EMR1_uc010dvc.3_Intron|EMR1_uc010dvb.3_Silent_p.L565L|EMR1_uc010xji.2_Silent_p.L476L|EMR1_uc010xjj.2_Silent_p.L440L	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	617					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGTGTGCCTCGTCTTGGCCA	0.512000														61			34		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4719065	4719065	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:4719065C>T	uc002fzc.3	+	13	1417	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	PLD2_uc010vsj.2_Missense_Mutation_p.R288C|PLD2_uc002fzd.3_Missense_Mutation_p.R431C	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	431					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCAGGTGATGCGTCACCCAGA	0.567000											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			5		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019093	14019093	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:14019093G>A	uc001rbt.2	-	1	229	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	17					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.A17D(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCCAGGACGGCCAACACCAA	0.557000														49			25		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147809	27147809	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:27147809G>A	uc002rhu.4	+	2	474	c.316G>A	c.(316-318)Gag>Aag	p.E106K	DPYSL5_uc002rhv.4_Missense_Mutation_p.E106K|DPYSL5_uc021vev.1_Missense_Mutation_p.E106K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	106					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCGACAAGGAGACCTCCCT	0.637000														36			22		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137212	40137212	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:40137212C>T	uc021qgf.1	-	0	631	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E211K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E207K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	211					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTAGGGATTTCCCGAAGGTTG	0.453000														141			43		0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125551344	125551344	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:125551344C>T	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GCAACTCCGCCCTTCCGGCTG	0.662000														77			56		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13394186	13394186	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:13394186G>A	uc002mwy.3	-	21	3953	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I	CACNA1A_uc010dzc.2_Silent_p.I765I|CACNA1A_uc010xnd.2_Silent_p.I1242I|CACNA1A_uc021ups.1_Silent_p.I1239I|CACNA1A_uc010xne.2_Silent_p.I1242I|CACNA1A_uc010dze.2_Silent_p.I1239I|CACNA1A_uc021upt.1_Silent_p.I1240I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1240					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAGGTTCAGGATGTAATGGC	0.572000														55			28		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77267115	77267115	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:77267115C>T	uc004ecx.4	+	8	2276	c.2116C>T	c.(2116-2118)Ctt>Ttt	p.L706F	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	706			L -> R (in MNKD).		ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GCGCCAGATTCTTCCAGGATT	0.348000														65			137		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503497	140503497	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140503497C>T	uc003lip.1	+	0	1917	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	639	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACAGGCTCGTGGTGCTTG	0.687000														80			43		0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114322182	114322182	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:114322182C>T	uc010tkf.2	+	0	586	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	161	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GGGCCAAGCCCCCTTCCAGGA	0.632000														17			6		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84651889	84651889	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:84651889C>T	uc003uic.3	-	10	1272	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	SEMA3D_uc010led.3_Missense_Mutation_p.R411Q|SEMA3D_uc003uib.3_Missense_Mutation_p.R50Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	411	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGGAAAATCTCGGGTGGACTT	0.413000														257			76		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218682838	218682838	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:218682838C>T	uc002vgt.2	-	23	4303	c.3905G>A	c.(3904-3906)cGt>cAt	p.R1302H	TNS1_uc002vgr.2_Missense_Mutation_p.R1289H|TNS1_uc002vgs.2_Missense_Mutation_p.R1281H|TNS1_uc010zjv.1_Missense_Mutation_p.R1281H	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1302						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCGAGGTGACGGCCCAGGCT	0.652000														39			14		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861147	55861147	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:55861147C>T	uc010rix.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GGCCTACAATCGCTACATAGC	0.433000														133			73		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83520203	83520203	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:83520203C>T	uc010vns.2	+	7	1308	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	CDH13_uc002fgx.3_Silent_p.I301I|CDH13_uc010vnt.2_Silent_p.I47I|CDH13_uc010vnu.2_Silent_p.I262I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	301	Cadherin 2.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGTTCTACATCGATCCTGAGA	0.488000														88			59		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78196546	78196546	+	Silent	SNP	C	T	T	rs147696830		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:78196546C>T	uc002jyb.2	+	3	633	c.327C>T	c.(325-327)tcC>tcT	p.S109S	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Silent_p.S109S|SLC26A11_uc002jyd.2_Silent_p.S109S|SLC26A11_uc010dhv.2_Silent_p.S109S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	109						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCATTATGTCCCTCCTGGTCT	0.617000														237			126		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122286277	122286277	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:122286277G>A	uc002tnc.3	-	3	744	c.354C>T	c.(352-354)atC>atT	p.I118I	CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Silent_p.I118I|CLASP1_uc010yza.2_Silent_p.I118I|CLASP1_uc021vnl.1_Silent_p.I118I|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tng.1_Silent_p.I118I|RNU4ATAC_uc010yzd.1_5'Flank	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	118					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGATCCATGATCTTTAGCA	0.498000														231			148		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876293	35876293	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:35876293G>A	uc003jjs.3	+	7	1174	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	362					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.F361Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAAAGCTTTGGAAGAGATTCA	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							75			23		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40115076	40115076	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:40115076C>T	uc003guy.4	+	6	1950	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F	N4BP2_uc010ifq.3_Missense_Mutation_p.L458F|N4BP2_uc010ifr.3_Missense_Mutation_p.L458F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	538						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATATAAAGTCCTTTTTCGGGA	0.323000														184			84		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22471689	22471689	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:22471689C>T	uc001wct.4	+	1	217	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336.																		GAGGGCAGCTCTGACATTAAA	0.443000														85			48		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859466	189859466	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:189859466C>T	uc002uqj.1	+	19	1481	c.1364C>T	c.(1363-1365)cCa>cTa	p.P455L	MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	455	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCTGGTATTCCAGGTGTTCCA	0.403000														66			38		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999452	72999452	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:72999452C>T	uc002lly.3	+	1	2518	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V	TSHZ1_uc021uln.1_Missense_Mutation_p.A652V	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	697						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCCCTGAGGCCGAGACTGGG	0.557000														77			33		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154319181	154319181	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:154319181C>T	uc001fex.3	+	25	3209	c.3209C>T	c.(3208-3210)gCc>gTc	p.A1070V		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	1056					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCCTCTTTGCCATGCACAGC	0.532000														284			6		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260276	30260276	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:30260276C>T	uc002kxm.1	-	6	1832	c.1444G>A	c.(1444-1446)Gga>Aga	p.G482R		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	482						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACATATTCTCCATTGTGTACA	0.408000														148			69		0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97271122	97271122	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:97271122G>A	uc002swn.4	-	14	2014	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	KANSL3_uc002swh.4_Missense_Mutation_p.S511F|KANSL3_uc002swi.4_Missense_Mutation_p.S550F|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.S536F|KANSL3_uc010fhz.3_Missense_Mutation_p.S443F|KANSL3_uc002swl.4_Missense_Mutation_p.S524F|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.S417F|KANSL3_uc002swo.3_5'UTR|KANSL3_uc002swp.1_Missense_Mutation_p.S524F	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	649																	GGAGATAAGGGACACCTTGAT	0.527000														75			41		0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036423	39036423	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39036423C>T	uc002hvl.3	-	3	779	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	241	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TGCCTCATTTCATTCATGATG	0.473000														98			69		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240565	39240565	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39240565G>A	uc010wfn.2	+	0	107	c.107G>A	c.(106-108)aGg>aAg	p.R36K		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ACCTGTTGCAGGACCACCTGC	0.652000														74			42		0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105396430	105396430	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:105396430G>A	uc010tyl.1	+	5	884	c.726G>A	c.(724-726)cgG>cgA	p.R242R	PLD4_uc001ypu.1_Silent_p.R235R	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	235					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TGGACTGGCGGTCTCTGACGC	0.602000														60			30		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453028	138453028	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:138453028C>T	uc003ihe.4	-	0	602	c.215G>A	c.(214-216)gGa>gAa	p.G72E	PCDH18_uc003ihf.4_Missense_Mutation_p.G65E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	72	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R71R(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGGAGAATTTCCCCTCTGCAT	0.433000														170			76		0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129536042	129536042	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:129536042G>A	uc009yas.2	+	0	505	c.505G>A	c.(505-507)Gac>Aac	p.D169N	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	169					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CGACGAGGACGACCCAGGTAA	0.662000														19			19		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79412073	79412073	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:79412073C>T	uc001diq.4	-	2	367	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	71	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTAGCATTTTCGCCACAGGAC	0.323000														23			19		0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23115573	23115573	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:23115573C>T	uc003xdc.2	+	5	1467	c.819C>T	c.(817-819)tgC>tgT	p.C273C	CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Silent_p.C163C|CHMP7_uc003xde.2_Silent_p.C131C	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	273					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GCCGGGCATGCCGAGCAGGAA	0.572000														268			5		0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103228746	103228746	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:103228746G>A	uc003hwb.1	-	2	928	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SLC39A8_uc011ceo.1_Silent_p.F133F|SLC39A8_uc003hwa.1_Silent_p.F66F|SLC39A8_uc003hwc.2_Silent_p.F133F	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	133						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TCACTGACAGGAATCCATATC	0.378000														162			71		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61304954	61304954	+	Nonstop_Mutation	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:61304954T>C	uc002ljf.3	-	7	1258	c.1172A>G	c.(1171-1173)tAg>tGg	p.*391W	SERPINB3_uc002lje.3_Nonstop_Mutation_p.*370W|SERPINB3_uc002ljg.3_Nonstop_Mutation_p.*391W	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	0					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P390Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TAATTGCATCTATGGGGATGA	0.388000														189			117		0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281714	71281714	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:71281714G>A	uc002jjn.3	-	1	1073	c.926C>T	c.(925-927)tCc>tTc	p.S309F	CDC42EP4_uc002jjo.3_Missense_Mutation_p.S309F|CDC42EP4_uc002jjp.1_Missense_Mutation_p.S239F|CDC42EP4_uc021ucn.1_Missense_Mutation_p.S309F	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	309					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCTGGAGAGGGAGCTGCTGTC	0.706000														68			42		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	T	T	rs117285325	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:78290635C>T	uc002bcy.4	-	12	2759	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_uc010bla.3_Missense_Mutation_p.D903N	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	920						intracellular	Rab GTPase activator activity|protein binding	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000														33			5		0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76261047	76261047	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:76261047G>A	uc001oxl.3	+	20	3969	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	C11orf30_uc001oxm.3_Missense_Mutation_p.E1178K|C11orf30_uc010rsb.2_Missense_Mutation_p.E1291K|C11orf30_uc010rsc.2_Missense_Mutation_p.E1277K|C11orf30_uc001oxn.3_Missense_Mutation_p.E1277K|C11orf30_uc010rsd.2_Missense_Mutation_p.E1185K|C11orf30_uc010rse.2_Missense_Mutation_p.E523K|C11orf30_uc001oxp.3_Missense_Mutation_p.E209K	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	1276					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TGTGGTGGTGGAGCCCAGTGG	0.483000														87			71		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706593	96706593	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:96706593C>T	uc010how.1	+	2	913	c.870C>T	c.(868-870)gcC>gcT	p.A290A	EPHA6_uc003drp.1_Silent_p.A290A	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	195						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CGTGCATTGCCCTGGTTTCAG	0.463000														265			184		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001604	172001604	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:172001604G>A	uc001gie.3	+	4	828	c.652G>A	c.(652-654)Gat>Aat	p.D218N	DNM3_uc001gid.4_Missense_Mutation_p.D218N|DNM3_uc009wwb.2_Missense_Mutation_p.D218N|DNM3_uc001gif.3_Missense_Mutation_p.D218N	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	218					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGATGCCAGGGATGTTCTAGA	0.373000														138			52		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723366	48723366	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:48723366G>A	uc001rrm.3	+	0	604	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	98					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGCCGCCACGAAGCGCCCAG	0.662000														35			20		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40743912	40743912	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:40743912C>T	uc002xkg.3	-	21	3210	c.3026G>A	c.(3025-3027)gGa>gAa	p.G1009E	PTPRT_uc010ggj.3_Missense_Mutation_p.G1028E|PTPRT_uc010ggi.3_Missense_Mutation_p.G212E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1009	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTAATGTCTCCGTAGACCTC	0.512000														146			69		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145664	42145665	+	Missense_Mutation	DNP	CG	AA	AA			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:42145664_42145665CG>AA	uc003gwn.3	-	2	1414_1415	c.834_835CG>TT	c.(832-837)gacgtg>gaTTtg	p.V279L	BEND4_uc003gwm.3_Missense_Mutation_p.V279L|BEND4_uc011byy.1_Missense_Mutation_p.V279L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	279								p.L278R(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGAGGATCCACGTCGGCCAGAT	0.520000														45			15		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400157	40400157	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:40400157G>A	uc003oph.1	-	1	1161	c.696C>T	c.(694-696)gcC>gcT	p.A232A		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	232						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACAAGGGTGGGGCAAAGGGTG	0.597000														120			43		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351982	10351982	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:10351982G>A	uc002gmn.3	-	31	4595	c.4484C>T	c.(4483-4485)tCc>tTc	p.S1495F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1495					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGATCCAGGGATTCCTCGTA	0.438000														142			79		0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66819689	66819689	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:66819689C>T	uc002aqb.3	+	8	1127	c.881C>T	c.(880-882)tCt>tTt	p.S294F	RPL4_uc002apx.3_5'Flank|ZWILCH_uc010bhu.1_Missense_Mutation_p.S180F|ZWILCH_uc002aqa.3_Missense_Mutation_p.S180F|ZWILCH_uc010bhv.3_Missense_Mutation_p.S180F	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	294					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GAAGCAAAATCTGCTGTTGAA	0.363000														71			28		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032855	16032855	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:16032855C>T	uc002nbu.2	-	8	1143	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CYP4F11_uc010eab.1_Silent_p.E369E|CYP4F11_uc002nbt.2_Silent_p.E369E	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	369					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACCATTCAATCTCTATAGGTT	0.507000														69			29		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396942	1396942	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:1396942C>T	uc002clk.2	+	27	3000	c.2842C>T	c.(2842-2844)Cat>Tat	p.H948Y	BAIAP3_uc010uuz.2_Missense_Mutation_p.H913Y|BAIAP3_uc010uva.2_Missense_Mutation_p.H885Y|BAIAP3_uc021tag.1_Missense_Mutation_p.H890Y|BAIAP3_uc002clj.3_Missense_Mutation_p.H930Y|BAIAP3_uc010uvc.1_Missense_Mutation_p.H877Y	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	948	MHD2.				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)				CAGCCGCTTCCATTTCACGCT	0.642000														27			13		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72423537	72423537	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:72423537C>T	uc001osu.3	-	5	1013	c.824G>A	c.(823-825)gGg>gAg	p.G275E	ARAP1_uc001osv.3_Missense_Mutation_p.G275E|ARAP1_uc001osr.3_Missense_Mutation_p.G35E|ARAP1_uc001oss.3_Missense_Mutation_p.G30E|ARAP1_uc009yth.3_Missense_Mutation_p.G30E|ARAP1_uc010rre.2_Missense_Mutation_p.G30E	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	275					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTGGTCGTCCCCAGACAGTTC	0.677000														253			142		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183776233	183776233	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:183776233G>A	uc003fmk.3	+	5	612	c.578G>A	c.(577-579)gGc>gAc	p.G193D		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	193						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGCTGCTGGGCATGGACAAG	0.587000														54			16		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175565133	175565133	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:175565133G>A	uc003ity.1	-	9	1702	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	GLRA3_uc003itz.1_Missense_Mutation_p.P385L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	400					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GGGGCCCTTTGGAGTCATGCC	0.483000														146			88		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735302	52735302	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:52735302C>T	uc001wzq.3	+	0	872	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	257						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.Q256*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TCCCCTCAGCCCCTGGAGGAG	0.677000														210			123		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35068320	35068320	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:35068320C>T	uc003jjm.3	-	8	1412	c.853G>A	c.(853-855)Gag>Aag	p.E285K	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Missense_Mutation_p.E285K|PRLR_uc003jjh.2_Missense_Mutation_p.E285K|PRLR_uc003jji.2_Missense_Mutation_p.E214K|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.E184K|PRLR_uc021xxl.1_Missense_Mutation_p.E285K|PRLR_uc010iuw.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	285					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTACTTACCTCCAACAGATGA	0.433000														124			55		0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118957028	118957028	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:118957028G>A	uc010qsr.2	+	0	29	c.29G>A	c.(28-30)aGg>aAg	p.R10K		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	10						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCAGGCCAGGAGATGCTGC	0.632000														104			40		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483148	59483148	+	Silent	SNP	G	A	A	rs150541292		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:59483148G>A	uc002lih.1	-	1	961	c.549C>T	c.(547-549)ctC>ctT	p.L183L	RNF152_uc021ula.1_Silent_p.L183L	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	183					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GCACGATGCCGAGGAGGAAGA	0.572000														134			77		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47479171	47479171	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:47479171G>A	uc003tnw.3	-	5	422	c.64C>T	c.(64-66)Cct>Tct	p.P22S	TNS3_uc010kyo.1_Missense_Mutation_p.P22S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	22	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CAGCCGGCAGGGAAGGACACA	0.622000														69			19		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276766	71276766	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:71276766C>T	uc001oqt.1	+	0	158	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	45						keratin filament		p.P45L(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGCTGTGTGCCCGTCTGCTG	0.687000														495			7		0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45922915	45922915	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:45922915G>A	uc003oxv.3	-	1	713	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	CLIC5_uc003oxu.3_Silent_p.L44L|CLIC5_uc003oxx.3_Silent_p.L44L	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	203					female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ACTCCTTTCAGCCAGAGGATC	0.483000														101			37		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6866924	6866924	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:6866924G>A	uc001met.1	+	0	11	c.11G>A	c.(10-12)gGa>gAa	p.G4E		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	4					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)		ATGGCTATAGGAAACTGGACA	0.383000														329			99		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167791305	167791305	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:167791305G>A	uc001ger.3	-	29	4541	c.4243C>T	c.(4243-4245)Cac>Tac	p.H1415Y	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.H1262Y|ADCY10_uc009wvk.3_Missense_Mutation_p.H1323Y	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1415					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGTCCACTGTGGAACTTGAGG	0.393000														51			25		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010363	32010363	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:32010363G>A	uc003nzl.2	-	39	12275	c.12073C>T	c.(12073-12075)Ccc>Tcc	p.P4025S	TNXB_uc003nzg.1_Missense_Mutation_p.P456S|TNXB_uc003nzh.1_Missense_Mutation_p.P494S	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4072	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGTCCCTGGGGAAGGGGATC	0.687000														15			11		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73487159	73487159	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:73487159C>T	uc010wsa.2	+	10	1380	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	KIAA0195_uc002jnz.4_Silent_p.F386F|KIAA0195_uc010wsb.2_Silent_p.F38F	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	386					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGCCACTTCCTGAGGGTGC	0.632000														62			40		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846205	47846205	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:47846205C>T	uc011dwm.2	-	2	2409	c.2375G>A	c.(2374-2376)gGg>gAg	p.G792E	PTCHD4_uc011dwn.2_Missense_Mutation_p.G539E	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	792						integral to membrane	hedgehog receptor activity										TGTGCAACCCCCAGTGAGCAG	0.428000														65			35		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38179109	38179109	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:38179109C>T	uc002rqn.2	+	1	877	c.751C>T	c.(751-753)Cct>Tct	p.P251S	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						TTTCCTTCATCCTCGTCCTGA	0.398000														141			65		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634258	180634258	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:180634258C>T	uc002unn.4	-	2	829	c.225G>A	c.(223-225)caG>caA	p.Q75Q		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	75						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGGGGCTGGCCTGGGCGGGTG	0.612000														74			29		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11782225	11782225	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:11782225G>T	uc010buu.1	-	9	2120	c.2058C>A	c.(2056-2058)ttC>ttA	p.F686L	TXNDC11_uc002dbg.1_Missense_Mutation_p.F659L	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	686	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCTGAGACGGGAACTGGGCAG	0.398000														107			51		2.43277e-16	2.46182e-16	1	1	0
ZNF488	118738	broad.mit.edu	37	10	48370880	48370880	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:48370880G>A	uc001jex.3	+	1	510	c.348G>A	c.(346-348)caG>caA	p.Q116Q	ZNF488_uc021ppx.1_Silent_p.Q116Q	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGGATGCTCAGGCCCAGGAGA	0.657000														44			22		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154794589	154794589	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:154794589G>A	uc021pah.1	-	1	1319	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	KCNN3_uc001ffo.3_Silent_p.I30I|KCNN3_uc001ffp.3_Silent_p.I335I|KCNN3_uc009wox.1_Silent_p.I335I	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	340						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGTGGTAGGCGATGATCAAGC	0.552000														72			24		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169681153	169681153	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:169681153G>A	uc002ueg.3	+	2	389	c.123G>A	c.(121-123)ctG>ctA	p.L41L	NOSTRIN_uc002uef.3_Silent_p.L41L|NOSTRIN_uc002ueh.3_5'UTR|NOSTRIN_uc010fpu.3_Intron	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	41	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	p.L41L(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GGGCAAACCTGGAAATTAGCT	0.473000														66			29		0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713620	138713620	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:138713620G>A	uc003vum.1	-	2	600	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	196								p.S196Y(1)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						CTTTCACAAAGGATTTGCACA	0.448000														65			29		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433345	55433345	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:55433345C>T	uc010rik.2	+	0	703	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GCACAAAGCCCTCTCTACCTG	0.502000														154			85		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74540461	74540461	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:74540461G>A	uc001dfy.4	-	5	1073	c.881C>T	c.(880-882)cCt>cTt	p.P294L	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.	294										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						TAAATCAACAGGATAATATAT	0.269000														11			6		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45996229	45996229	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:45996229C>T	uc003bgj.1	+	16	2162	c.2015C>T	c.(2014-2016)gCc>gTc	p.A672V	FBLN1_uc003bgk.1_Non-coding_Transcript	NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	672					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCATTTCATGCCGTCCTGAAG	0.572000														581			7		0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72718281	72718281	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:72718281G>A	uc003txw.3	-	6	957	c.880C>T	c.(880-882)Cca>Tca	p.P294S	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.P294S|NSUN5_uc003txv.3_Missense_Mutation_p.P294S|NSUN5_uc003txx.3_Missense_Mutation_p.P256S	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	294							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGGTAGCGTGGATCCGAGGGG	0.642000														47			63		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32774874	32774874	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:32774874G>A	uc003jhv.3	+	3	1565	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	NPR3_uc010iuo.3_Missense_Mutation_p.E158K|NPR3_uc003jhw.2_Missense_Mutation_p.E158K|NPR3_uc003jhu.3_Missense_Mutation_p.E374K	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	374					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGCTCTACATGAAGTACTCAG	0.433000														238			101		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86482649	86482649	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:86482649G>A	uc004ana.3	-	12	3028	c.2884C>T	c.(2884-2886)Ctg>Ttg	p.L962L	KIF27_uc010mpw.3_Silent_p.L896L|KIF27_uc010mpx.3_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	962					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCTGTAACAGAGCCTCCTTC	0.408000														86			46		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24843936	24843936	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:24843936G>A	uc003sxf.3	-	21	2970	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.F819F|OSBPL3_uc003sxh.3_Silent_p.F824F|OSBPL3_uc003sxi.3_Silent_p.F788F	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	855					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCACGAACCTGAAAAACCGAG	0.463000														175			96		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:110477365G>A	uc003yne.3	+	48	8408	c.8304G>A	c.(8302-8304)ggG>ggA	p.G2768G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2768					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2770G(3)		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)			ACAGATGTGGGGGTTGGAGTG	0.463000										HNSCC(38;0.096)				107			70		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17547909	17547909	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:17547909C>T	uc001mnf.3	-	7	768	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	USH1C_uc001mne.3_Missense_Mutation_p.R220Q|USH1C_uc009yhb.3_Missense_Mutation_p.R220Q|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.R184Q	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	220	PDZ 2.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCCAAGGCCTCGGGAGCCTAC	0.617000														71			20		0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39305619G>T	uc002hwb.3	-	0	436	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(4)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637000														85			4		0.00909568	0.00916326	1	1	0
CTNNA1	1495	broad.mit.edu	37	5	138266243	138266243	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:138266243C>A	uc003ldh.3	+	14	2187	c.2092C>A	c.(2092-2094)Ctg>Atg	p.L698M	CTNNA1_uc011cyx.2_Missense_Mutation_p.L595M|CTNNA1_uc011cyy.2_Missense_Mutation_p.L575M|CTNNA1_uc003ldi.3_Missense_Mutation_p.L396M|CTNNA1_uc003ldj.3_Missense_Mutation_p.L698M|CTNNA1_uc003ldl.3_Missense_Mutation_p.L328M	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	698					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGAGCAAGCTGGATGCTGA	0.502000														288			5		0.217242	0.218208	1	1	0
NF1	4763	broad.mit.edu	37	17	29509639	29509639	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:29509639C>T	uc002hgg.3	+	7	1227	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	NF1_uc002hge.2_Nonsense_Mutation_p.Q282*|NF1_uc002hgf.2_Nonsense_Mutation_p.Q282*|NF1_uc002hgh.3_Nonsense_Mutation_p.Q282*|NF1_uc010csn.2_Nonsense_Mutation_p.Q142*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	282					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.Q282Q(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAATAATCCAGGATATATC	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				28			9		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917706	156917706	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:156917706G>A	uc001fqo.3	-	23	3116	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	ARHGEF11_uc010phu.2_Silent_p.L108L|ARHGEF11_uc001fqn.3_Silent_p.L732L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	692					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTGGGGAAGGAGGGTATCTG	0.552000														36			15		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139714	55139714	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:55139714G>A	uc003han.4	+	9	1706	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E353K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	459	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E459K(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGTAATAATGAAACTTCCTG	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				84			43		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:41790659T>G	uc010lxb.3	-	17	5623	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_uc010lxc.3_Silent_p.P1693P|KAT6A_uc003xon.4_Silent_p.P1693P	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000														27			7		0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98088483	98088483	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:98088483G>A	uc001kmf.3	+	8	1178	c.1008_splice	c.e8-1	p.R336_splice	DNTT_uc001kmg.3_Splice_Site_p.R336_splice	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	336	Involved in ssDNA binding (By similarity).|Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAAATTAGGGGTAAGAAGAT	0.328000														85			34		0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75868811	75868811	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:75868811A>G	uc001jwd.3	+	17	2736	c.2642A>G	c.(2641-2643)aAg>aGg	p.K881R	VCL_uc009xrr.3_Missense_Mutation_p.K630R|VCL_uc010qky.1_Missense_Mutation_p.K788R|VCL_uc001jwe.3_Missense_Mutation_p.K881R|VCL_uc010qkz.2_Missense_Mutation_p.K142R	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	881	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCAGAGGAAAAGGATGAAGAG	0.527000														119			4		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245135	59245135	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:59245135T>G	uc001nnz.1	+	0	233	c.233T>G	c.(232-234)gTg>gGg	p.V78G		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCATCACAGTGCCCAAGGTT	0.438000														170			85		0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231076203	231076203	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:231076203G>A	uc001huf.4	-	6	814	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	TTC13_uc001hug.4_Silent_p.L205L|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Silent_p.L148L	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	258							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATGAAGTACAGGGTTCCCCGA	0.433000														60			40		0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90337353	90337353	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:90337353G>A	uc003pni.4	+	13	1764	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	ANKRD6_uc003pne.4_Missense_Mutation_p.E475K|ANKRD6_uc003pnf.4_Missense_Mutation_p.E440K|ANKRD6_uc011dzy.2_Missense_Mutation_p.E475K|ANKRD6_uc010kcd.3_Missense_Mutation_p.E416K|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.E71K	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	475							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGAGAGGACGGAGTGCCTGAA	0.502000														59			26		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357546	40357546	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:40357546G>A	uc002omp.4	-	33	15775	c.15767C>T	c.(15766-15768)cCt>cTt	p.P5256L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5256	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATAGACACCAGGAGAGGTGGT	0.602000														85			25		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66713161	66713161	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:66713161C>T	uc001dcn.3	+	3	491	c.300C>T	c.(298-300)ggC>ggT	p.G100G	PDE4B_uc009war.3_Silent_p.G8G|PDE4B_uc001dco.3_Silent_p.G100G|PDE4B_uc001dcp.3_Silent_p.G85G	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	100					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGAAAATGGCCCTTCCCCAG	0.542000														597			6		0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16091129	16091129	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:16091129G>A	uc003jfo.2	-	2	968	c.755C>T	c.(754-756)tCc>tTc	p.S252F	MARCH11_uc010itw.1_Missense_Mutation_p.S8F	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	252						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TAAGAACAGGGATCCTAGGAT	0.453000														15			6		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434771	31434771	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:31434771C>T	uc010cap.1	+	24	3010	c.2961C>T	c.(2959-2961)gcC>gcT	p.A987A	ITGAD_uc002ebv.1_Silent_p.A986A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	986					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCATGGAGGCCCCATCTCAGG	0.542000														96			50		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533867	55533867	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:55533867C>T	uc003xsd.1	+	1	489	c.341C>T	c.(340-342)cCt>cTt	p.P114L	RP1_uc011ldy.1_Missense_Mutation_p.P114L	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	114	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGTGCAGCCTGTAGACCTG	0.692000														150			78		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52356755	52356755	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:52356755C>T	uc011bef.2	+	1	558	c.297C>T	c.(295-297)tcC>tcT	p.S99S	DNAH1_uc003ddt.1_Silent_p.S99S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	99	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTTCTACTCCGACATCCTCA	0.587000														14			7		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70897897	70897897	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:70897897G>A	uc003pfc.1	+	46	3092	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	992	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGCTCCATGGGATCCCCTGGC	0.597000														51			31		0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53587064	53587064	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:53587064G>T	uc009zmv.3	-	10	1657	c.1586C>A	c.(1585-1587)gCt>gAt	p.A529D	ITGB7_uc001scc.3_Missense_Mutation_p.A529D|ITGB7_uc010snz.2_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	529	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCATTGGGAGCCCGGCACCC	0.632000														69			4		1	1	1	1	0
PRIM2	5558	broad.mit.edu	37	6	57246872	57246872	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:57246872T>A	uc003pdx.3	+	6	686	c.599T>A	c.(598-600)gTc>gAc	p.V200D	PRIM2_uc003pdw.3_Missense_Mutation_p.V200D	NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	200					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGAAGGAAAGTCTATTTGGAA	0.403000														63			20		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146488	70146488	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:70146488C>T	uc003hej.3	+	0	272	c.270C>T	c.(268-270)atC>atT	p.I90I	UGT2B28_uc010ihr.3_Silent_p.I90I	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	90					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AGAATATCATCATGCAACAGG	0.328000														175			92		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1370616	1370616	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:1370616G>A	uc002fsp.3	-	30	3305	c.3085C>T	c.(3085-3087)Ccc>Tcc	p.P1029S	MYO1C_uc002fsn.3_Missense_Mutation_p.P1010S|MYO1C_uc002fso.3_Missense_Mutation_p.P994S	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	1029					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCCTGCCGGGGCCCCCTGCA	0.647000														54			4		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3732062	3732062	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:3732062G>A	uc001aky.2	-	21	3041	c.2682C>T	c.(2680-2682)gcC>gcT	p.A894A	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	894						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGCCTGATGCGGCCACAGCTG	0.637000														37			18		0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134089703	134089703	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:134089703C>T	uc003eqf.2	-	1	864	c.747G>A	c.(745-747)caG>caA	p.Q249Q	AMOTL2_uc003eqg.1_Silent_p.Q191Q|AMOTL2_uc003eqh.1_Silent_p.Q191Q	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	191										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGGGCCCTGCTGGTTGCGGG	0.662000														164			4		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276474	186276474	+	Silent	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:186276474T>C	uc001gru.4	+	6	1674	c.1623T>C	c.(1621-1623)acT>acC	p.T541T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T500T|PRG4_uc009wyl.3_Silent_p.T448T|PRG4_uc009wym.3_Silent_p.T407T|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	541	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTACCAAGTCTG	0.637000														213			11		0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866981	7866981	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:7866981G>A	uc003jeb.3	-	1	1388	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	FASTKD3_uc011cmp.2_Missense_Mutation_p.R108C|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	406					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.P405R(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAATCTGACGAGGTGAAAAT	0.403000														79			34		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135738894	135738894	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:135738894G>A	uc002tue.1	-	8	3448	c.3417C>T	c.(3415-3417)ttC>ttT	p.F1139F	YSK4_uc002tuf.1_Silent_p.F321F|YSK4_uc010fnc.1_Silent_p.F273F|YSK4_uc010fnd.1_Silent_p.F1026F|YSK4_uc010zbg.1_Silent_p.F271F|YSK4_uc021vpz.1_5'UTR|YSK4_uc002tuh.4_Silent_p.F867F|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1139	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAAACTCCATGAAAATGCTCA	0.408000														134			82		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL									98			16		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437720	125437720	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:125437720C>T	uc011lzb.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGTATTTCTTCCTGGTTTTTG	0.418000														188			107		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66273119	66273119	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:66273119C>T	uc002apm.2	-	6	900	c.759G>A	c.(757-759)tgG>tgA	p.W253*	MEGF11_uc002apl.2_Nonsense_Mutation_p.W178*|MEGF11_uc002apn.1_Nonsense_Mutation_p.W253*	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	253	EGF-like 4.					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						CACTTACCGTCCAGCCTGGGG	0.612000														20			6		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16672917	16672917	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:16672917G>A	uc003jft.4	-	36	5658	c.5190C>T	c.(5188-5190)atC>atT	p.I1730I	MYO10_uc011cnb.2_Silent_p.I359I|MYO10_uc011cnc.2_Silent_p.I609I|MYO10_uc011cnd.2_Silent_p.I1087I|MYO10_uc011cne.2_Silent_p.I1087I|MYO10_uc010itx.3_Silent_p.I1352I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1730	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAGGCCTCGGATCAGCTTCT	0.557000														29			20		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497986	20497986	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:20497986G>A	uc010bwe.3	+	14	1959	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T	ACSM2A_uc002dhf.4_Missense_Mutation_p.A574T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A574T|ACSM2A_uc010vay.2_Missense_Mutation_p.A495T|ACSM2A_uc002dhh.4_Missense_Mutation_p.A204T|AX747287_uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	574					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTCCGGAAAAGCCCGTGCGCA	0.458000														217			121		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Silent	SNP	G	A	A	rs149915358	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:121739511G>A	uc003ksw.1	+	2	287	c.81G>A	c.(79-81)acG>acA	p.T27T	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Silent_p.T27T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	27					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTCAAGACGATCCCAGAAC	0.453000														192			90		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	T	T	rs66505048		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:38119859C>T	uc003atr.3	+	6	1567	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	TRIOBP_uc003atu.3_Silent_p.C260C|TRIOBP_uc003atq.1_Silent_p.C432C|TRIOBP_uc003ats.1_Silent_p.C260C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000														217			5		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744846	62744846	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:62744846C>T	uc001nwk.3	-	8	1708	c.1375G>A	c.(1375-1377)Gga>Aga	p.G459R	SLC22A6_uc001nwl.3_Intron|SLC22A6_uc001nwj.3_Missense_Mutation_p.G459R|SLC22A6_uc001nwm.3_Intron	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	459					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.G459*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGCCCATTCCCATGCCTGTC	0.612000														28			13		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									64			39		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3415825	3415825	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:3415825G>A	uc001akl.3	-	23	3198	c.2971C>T	c.(2971-2973)Cca>Tca	p.P991S	MEGF6_uc001akk.3_Intron	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	991						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTGTGGGCTGGGCAGGCTGCA	0.682000														17			13		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248020615	248020615	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:248020615C>T	uc001ido.3	+	0	115	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	23						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)			CCTGGATTTCCTGCAGGAGCC	0.736000														17			8		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501783	45501783	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:45501783G>A	uc001cnd.2	-	8	2311	c.2083C>T	c.(2083-2085)Caa>Taa	p.Q695*		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	695							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTTGGAGTTGGCTCAGGAGC	0.512000														82			55		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106757686	106757686	+	RNA	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:106757686G>A	uc021ser.1	-	749		c.19692C>T								Parts of antibodies, mostly variable regions.																		TGTCCACAGGGTCCATGTTGG	0.527000														226			108		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938140	21938140	+	RNA	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:21938140G>A	uc010tzj.1	-	0		c.2600C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCAGAAATATGAAATGGCCCC	0.542000														395			19		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97081981	97081981	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:97081981C>T	uc004aup.1	-	5	1420	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	467										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				AGCAATTCTTCCAGGAATCGG	0.577000														186			113		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626200	142626200	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:142626200G>A	uc003wby.1	-	4	767	c.503C>T	c.(502-504)tCc>tTc	p.S168F	TRPV5_uc003wbz.3_Missense_Mutation_p.S168F	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	168					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGCAGCAAAGGACAAAGGGTG	0.602000														49			17		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170120	207170120	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:207170120G>A	uc002vbp.2	+	4	1118	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	290							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAATTCCATGAACGCATGGG	0.358000														33			19		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161162403	161162403	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:161162403C>T	uc003qtm.4	+	16	2191	c.2079C>T	c.(2077-2079)gtC>gtT	p.V693V		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	693	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATTATGTGGTCGCTGACCGGA	0.473000														104			58		0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153643478	153643478	+	Splice_Site	SNP	C	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:153643478C>A	uc001fcr.3	-	1	1	c.-80_splice	c.e1-1		ILF2_uc010pdy.2_Splice_Site|ILF2_uc009wol.1_Splice_Site|TRNA_Met_uc021paa.1_5'Flank	NM_004515	NP_004506	Q12905	ILF2_HUMAN	Homo sapiens interleukin enhancer binding factor 2, 45kDa (ILF2), mRNA.						immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCGTCTTGCCGGCGTGTCC	0.537000														177			92		6.20368e-34	6.32496e-34	1	1	0
NGF	4803	broad.mit.edu	37	1	115829023	115829023	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:115829023C>T	uc021osd.1	-	0	394	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	NGF_uc001efu.1_Missense_Mutation_p.E132K	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	132					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACCGAGAATTCGCCCCTGTGG	0.567000														63			34		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325380	150325380	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:150325380G>A	uc022apv.1	-	2	996	c.516C>T	c.(514-516)ccC>ccT	p.P172P	GIMAP6_uc003whn.3_Silent_p.P102P|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	102							GTP binding	p.G171S(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGAGACCTGGGGGGACAGAA	0.622000														111			123		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53678753	53678753	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:53678753C>A	uc010eqm.1	-	2	187	c.87G>T	c.(85-87)caG>caT	p.Q29H		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q29H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACAAAGTCTTCTGAGCAGGGT	0.458000														212			101		7.17885e-55	7.35236e-55	1	1	0
STEAP3	55240	broad.mit.edu	37	2	120005612	120005612	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:120005612C>T	uc002tlp.3	+	3	1007	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	STEAP3_uc002tlq.3_Missense_Mutation_p.R294C|STEAP3_uc002tlr.3_Missense_Mutation_p.R284C|STEAP3_uc010fle.3_Missense_Mutation_p.R284C	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	284	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCAGCTGCGGCGCGGCACCAA	0.682000														116			4		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913306	6913306	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:6913306G>A	uc010rau.2	-	0	426	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGCCAGCTGGACACACACTT	0.517000														107			107		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348792	38348792	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:38348792C>T	uc003cib.2	+	1	637	c.564C>T	c.(562-564)atC>atT	p.I188I	SLC22A14_uc010hhc.1_Silent_p.I188I|SLC22A14_uc003cia.2_Silent_p.I188I|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	188						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGCACAGATCATGTTCATGG	0.552000														170			89		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724870	13724870	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:13724870G>A	uc001rbt.2	-	9	2218	c.2039C>T	c.(2038-2040)cCt>cTt	p.P680L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	680					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.P679P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAAGCGGAAAGGGGGTGAGAA	0.483000														33			19		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681602	100681602	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:100681602C>T	uc003uxp.1	+	2	6958	c.6905C>T	c.(6904-6906)aCt>aTt	p.T2302I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2302	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)					CTTTCAACAACTCCTGTTGAC	0.473000														832			8		0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143610	69143610	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:69143610C>T	uc010cfh.3	+	1	536	c.312C>T	c.(310-312)tgC>tgT	p.C104C	HAS3_uc002ewk.3_Silent_p.C104C|HAS3_uc010vlk.1_Silent_p.C104C|HAS3_uc002ewl.3_Silent_p.C104C	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	104					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCGCAAGTGCCTGCGCTCGG	0.662000														66			39		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680104	67680104	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:67680104C>T	uc009xpn.1	-	17	2795	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	CTNNA3_uc001jmw.2_Missense_Mutation_p.G891E	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	891					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATTTGTCTTCCTCTAAATTC	0.378000														102			40		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26683016	26683016	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:26683016G>A	uc002rhk.3	-	45	5998	c.5871C>T	c.(5869-5871)ttC>ttT	p.F1957F	OTOF_uc010yla.2_Intron|OTOF_uc002rhh.3_Silent_p.F1190F|OTOF_uc002rhi.3_Silent_p.F1267F|OTOF_uc002rhj.3_Intron	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1957					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCCACAAGAAGTAGCGAG	0.602000														16			7		0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877421	96877421	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:96877421C>T	uc010uri.2	+	1	1783	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	NR2F2_uc002btp.3_Missense_Mutation_p.R54C|NR2F2_uc010urj.2_Missense_Mutation_p.R34C|NR2F2_uc010urk.2_Missense_Mutation_p.R34C	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	187	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCTGCTGTTGCGCGCGGAGCC	0.617000														574			6		0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24779948	24779948	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:24779948C>T	uc021rrp.1	+	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F	CIDEB_uc001won.3_5'Flank|CIDEB_uc001woo.3_5'UTR|CIDEB_uc001wop.3_5'UTR|LTB4R2_uc010alo.3_Silent_p.F26F|LTB4R2_uc001wor.3_Silent_p.F26F|LTB4R_uc001wos.3_5'Flank|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	57					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCACAGCCTTCCTGCTGCTGG	0.701000														109			53		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142567932	142567932	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:142567932C>T	uc002tvj.1	-	1	1093	c.121G>A	c.(121-123)Gat>Aat	p.D41N	LRP1B_uc010fnl.1_Missense_Mutation_p.D78N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	41	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)		GTCACGTGATCGTGGCAAAGA	0.448000										TSP Lung(27;0.18)				39			33		0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3275553	3275553	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:3275553T>C	uc003zhr.3	-	9	1345	c.1033A>G	c.(1033-1035)Act>Gct	p.T345A	RFX3_uc010mhd.3_Missense_Mutation_p.T345A|RFX3_uc003zhs.1_Missense_Mutation_p.T345A|RFX3_uc003zht.1_Missense_Mutation_p.T345A|RFX3_uc010mhe.1_Missense_Mutation_p.T320A	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	345					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCAAAGGTAGTACCATCTGGC	0.413000														25			60		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651553	7651553	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:7651553C>T	uc001qsz.3	-	3	817	c.689G>A	c.(688-690)gGa>gAa	p.G230E	CD163_uc001qta.3_Missense_Mutation_p.G230E|CD163_uc009zfw.2_Missense_Mutation_p.G230E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	230	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.N229K(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						TGACTCATTTCCGTTGCATAT	0.433000														209			108		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221246	5221246	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:5221246G>A	uc010qyz.2	-	0	685	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAAGAATCAGGATGTAGGAG	0.433000														76			106		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61898843	61898843	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:61898843C>T	uc001jky.3	-	23	2955	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	ANK3_uc001jkw.3_Missense_Mutation_p.E7K|ANK3_uc009xpa.3_Missense_Mutation_p.E7K|ANK3_uc001jkx.3_Missense_Mutation_p.E51K|ANK3_uc010qih.2_Missense_Mutation_p.E874K|ANK3_uc001jkz.4_Missense_Mutation_p.E867K|ANK3_uc001jlb.1_Missense_Mutation_p.E381K|ANK3_uc001jlc.1_Missense_Mutation_p.E513K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	873					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						ATTGCATCTTCACCTGCAGAT	0.473000														183			84		0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27224028	27224028	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:27224028G>A	uc001bne.3	-	1	669	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	BC016143_uc021ojq.1_Intron|GPATCH3_uc009vsp.2_Missense_Mutation_p.R25W	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	Homo sapiens G patch domain containing 3 (GPATCH3), mRNA.	214						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GTGATGATCCGAGGGGGTAGG	0.607000														145			86		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62265793	62265793	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:62265793G>A	uc002jed.3	-	4	2331	c.2180C>T	c.(2179-2181)cCc>cTc	p.P727L	TEX2_uc002jec.3_Intron|TEX2_uc002jee.3_Intron	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	724				PGLLP -> LRAFA (in Ref. 2; CAH10519).	signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAAGAAGACGGGGGCTATTCA	0.493000														66			35		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847335	47847335	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:47847335C>T	uc011dwm.2	-	2	1279	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	PTCHD4_uc011dwn.2_Silent_p.L162L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	415						integral to membrane	hedgehog receptor activity										GTTTGCGATCCAGGTATTCTG	0.498000														82			33		0	0	1	0	0
GINS2	51659	broad.mit.edu	37	16	85712251	85712251	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:85712251C>T	uc002fja.3	-	3	411	c.327G>A	c.(325-327)aaG>aaA	p.K109K		NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	109					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						TTTCGTCTGCCTTCGGGATGT	0.517000														116			69		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198723483	198723483	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:198723483C>T	uc001gur.1	+	31	3769	c.3589C>T	c.(3589-3591)Caa>Taa	p.Q1197*	PTPRC_uc001gut.1_Nonsense_Mutation_p.Q1036*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1197	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGATATTTTTCAAGTGGTAAA	0.378000														111			57		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806033	97806033	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:97806033G>A	uc011bgs.2	+	0	17	c.17G>A	c.(16-18)gGa>gAa	p.G6E		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATATCAGAGGGAAATAAGACT	0.373000														179			77		0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40464489	40464489	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:40464489G>A	uc003ckd.4	+	7	1072	c.980G>A	c.(979-981)gGa>gAa	p.G327E	ENTPD3_uc010hhy.3_Missense_Mutation_p.G327E|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	327						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		ACTTTTGAAGGAACTGGGGAC	0.448000														94			39		0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42752805	42752805	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:42752805G>A	uc002ote.4	-	3	1617	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	ERF_uc002otd.4_Missense_Mutation_p.R218C	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	487					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TCACTCCAGCGCCGCTTAAAG	0.682000														143			79		0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44530940	44530940	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:44530940C>A	uc002xqm.2	-	10	1736	c.1201G>T	c.(1201-1203)Ggg>Tgg	p.G401W	PLTP_uc002xql.2_Missense_Mutation_p.G293W|PLTP_uc010zxj.2_Missense_Mutation_p.G286W|PLTP_uc002xqq.2_Missense_Mutation_p.G350W|PLTP_uc002xqn.2_Missense_Mutation_p.G381W|PLTP_uc002xqo.2_Missense_Mutation_p.G329W	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	381					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGGGCCTTCCCCCGGAGAGCC	0.607000														47			18		6.49762e-13	6.5654e-13	1	1	0
KCNJ4	3761	broad.mit.edu	37	22	38823444	38823444	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:38823444C>T	uc003avs.1	-	1	791	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	KCNJ4_uc003avt.1_Missense_Mutation_p.G232S|KCNJ4_uc021wpp.1_Missense_Mutation_p.G232S	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	232					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGGTACTCGCCCTCCTGGGTC	0.627000														65			29		0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102359053	102359053	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:102359053C>T	uc010uts.2	+	0	664	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L222M(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CATCTTCATTCTGTTCACTGT	0.468000														159			77		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105261767	105261767	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:105261767C>T	uc003yls.3	+	25	3937	c.3696C>T	c.(3694-3696)atC>atT	p.I1232I	RIMS2_uc003ylp.3_Silent_p.I1214I|RIMS2_uc003ylw.2_Silent_p.I1221I|RIMS2_uc003ylq.3_Silent_p.I1028I|RIMS2_uc003ylr.3_Silent_p.I1053I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1276					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.I1028I(2)|p.I1214I(1)|p.I1232I(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGTAGAAATCATCCGGGCCC	0.398000										HNSCC(12;0.0054)				64			25		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29001417	29001417	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:29001417G>A	uc001usb.3	-	9	1600	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S	FLT1_uc010aar.1_Missense_Mutation_p.P439S|FLT1_uc001usc.3_Missense_Mutation_p.P439S|FLT1_uc010tdp.1_Missense_Mutation_p.P439S|HV303168_uc021rhp.1_5'Flank	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	439	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCCGGGTCTGGAAACGATGAC	0.502000														78			41		0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118235847	118235847	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:118235847C>T	uc001psw.3	+	1	187	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	UBE4A_uc001psv.3_Missense_Mutation_p.L18F	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	18					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTTTGCTGCTCTTTTTGGCTC	0.463000														21			33		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455038	187455038	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:187455038G>A	uc003izd.1	-	1	876	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	286					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGCAGCTGTTGAAATACGCCA	0.507000														138			90		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	80968129	80968130	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:80968129_80968130AC>TT	uc001kaf.2	+	5	669_670	c.97_98AC>TT	c.(97-99)acg>TTg	p.T33L	ZMIZ1_uc001kae.3_Missense_Mutation_p.T33L	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	33					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAATGCCGCCACGGAGCTGCTG	0.624000														69			20		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75038070	75038070	+	Silent	SNP	T	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:75038070T>A	uc009xrc.3	-	20	2596	c.2475A>T	c.(2473-2475)ctA>ctT	p.L825L	TTC18_uc001jty.3_Silent_p.L825L|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Silent_p.L206L	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	825							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GAAATTTGTCTAGAATAGATA	0.328000														36			16		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105670	151105670	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:151105670G>A	uc001ewv.3	-	19	2515	c.2179C>T	c.(2179-2181)Ctg>Ttg	p.L727L	SEMA6C_uc001ewu.3_Silent_p.L695L|SEMA6C_uc001eww.3_Silent_p.L687L	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	695						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			AGGCAGGCCAGCTCCGGCGGG	0.746000														37			8		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056633	64056633	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:64056633C>T	uc010rni.2	+	8	1252	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_Missense_Mutation_p.H336Y|GPR137_uc001nzi.3_Missense_Mutation_p.H386Y|GPR137_uc021qkt.1_Silent_p.A350A|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	350						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ACCAGGCGGCCACCACCACAG	0.662000														117			43		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92592402	92592402	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:92592402G>A	uc001pdj.4	+	19	11589	c.11572G>A	c.(11572-11574)Gat>Aat	p.D3858N	FAT3_uc001pdi.4_Missense_Mutation_p.D298N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3858	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAAAGAAGAGGATTTCAAACT	0.393000										TCGA Ovarian(4;0.039)				24			19		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028093	170028093	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:170028093G>A	uc003isa.1	-	10	2738	c.2403C>T	c.(2401-2403)tcC>tcT	p.S801S		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	801						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CGGAGTCCAGGGAACTTGCCT	0.612000														132			76		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946866	227946867	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:227946866_227946867CC>TA	uc021vxr.1	-	21	1761_1762	c.1660_1661GG>TA	c.(1660-1662)ggg>TAg	p.G554*	COL4A4_uc021vxs.1_Nonsense_Mutation_p.G554*	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	554	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)		ACCCTTCGCCCCTTTGTTGCCA	0.421000														176			76		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71382004	71382004	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:71382004G>A	uc010dfm.3	-	31	4551	c.4551C>T	c.(4549-4551)tcC>tcT	p.S1517S	SDK2_uc002jjt.4_Silent_p.S676S|SDK2_uc010dfn.2_Silent_p.S1196S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1517	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGATTAGCACGGAGGTGGTGG	0.632000														30			7		0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63283274	63283274	+	Silent	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:63283274T>C	uc021vim.1	+	4	1164	c.888T>C	c.(886-888)caT>caC	p.H296H	OTX1_uc002scd.3_Silent_p.H296H|OTX1_uc010ypt.2_Silent_p.H230H	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	296	His-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					accaccaccatcaccaccacc	0.642000														131			6		0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41102083	41102083	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:41102083C>T	uc001zmt.1	+	3	1000	c.486C>T	c.(484-486)ccC>ccT	p.P162P	DNAJC17_uc001zms.2_5'Flank|DNAJC17_uc010bbz.2_5'Flank|DNAJC17_uc010bca.2_5'Flank|DNAJC17_uc010bcb.2_5'Flank|ZFYVE19_uc001zmu.1_Silent_p.P162P|ZFYVE19_uc001zmv.1_5'UTR	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	162							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCAAAAGCCCAGCACTTCCC	0.582000														116			48		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25755598	25755598	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:25755598C>T	uc001isj.3	+	4	1414	c.1354C>T	c.(1354-1356)Ctt>Ttt	p.L452F		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	452						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGCATCGGGCCTTATCCTGTT	0.348000														54			26		0	0	1	0	0
NECAB1	64168	broad.mit.edu	37	8	91937813	91937813	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:91937813G>A	uc011lgg.2	+	6	739	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA.	182					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCTGGAAAACGATCAAGCCGC	0.463000														34			17		0	0	1	0	0
AOC4	90586	broad.mit.edu	37	17	41019509	41019509	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:41019509C>T	uc002ibw.1	+	0	348	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	AF047486_uc002ibx.3_5'Flank					Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA.																		GGCTGTGATGCGCTTTCTGAC	0.637000														448			6		0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601643	7601643	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:7601643C>T	uc003mxr.3	+	4	540	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	SNRNP48_uc003mxs.3_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	161					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCAAGCTGATCGTCTTGCCCT	0.363000														133			48		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452749	179452749	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:179452749C>T	uc021vsy.1	-	253	55906	c.55681G>A	c.(55681-55683)Gaa>Aaa	p.E18561K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12256K|TTN_uc021vta.1_Missense_Mutation_p.E12189K|TTN_uc021vtb.1_Missense_Mutation_p.E12064K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19488	Fibronectin type-III 34.						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)			ACAGTGAATTCCTTGCGTACA	0.473000														41			31		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25315917	25315917	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:25315917G>A	uc003abg.2	+	24	3472	c.3315G>A	c.(3313-3315)ttG>ttA	p.L1105L	SGSM1_uc010guu.1_Silent_p.L1050L|SGSM1_uc003abh.2_Silent_p.L1044L|SGSM1_uc003abj.2_Silent_p.L989L|SGSM1_uc003abi.1_Silent_p.L1025L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1105						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACATCATTTTGGAGAACAACA	0.522000														29			17		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41709394	41709394	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:41709394G>A	uc002opw.3	+	6	1071	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	CYP2S1_uc010xvx.2_Missense_Mutation_p.G64D	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	339					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGGGGGCTGGCCAGGCACCA	0.662000														20			3		0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097004	110097004	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:110097004C>T	uc003koz.3	+	7	846	c.779C>T	c.(778-780)cCg>cTg	p.P260L	SLC25A46_uc011cvi.2_Missense_Mutation_p.P169L	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	Homo sapiens solute carrier family 25, member 46 (SLC25A46), mRNA.	260					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CGACTTCTTCCGCTTCTTTCC	0.403000														121			58		0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109260899	109260899	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:109260899C>T	uc003ymu.3	-	0	61	c.33G>A	c.(31-33)gcG>gcA	p.A11A	EIF3E_uc010mcj.1_Silent_p.A11A	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	11	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding	p.A11A(2)|p.I10I(2)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CCAAAAAGTGCGCGATGCGAG	0.512000														372			6		0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9948679	9948679	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:9948679C>T	uc003btu.3	+	6	685	c.681C>T	c.(679-681)gcC>gcT	p.A227A	CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Silent_p.A187A|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Silent_p.A71A|IL17RE_uc010hcq.3_Silent_p.A187A|IL17RE_uc003btw.3_Silent_p.A187A	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	187						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TGCCTGAGGCCCGGGCTATTC	0.572000														77			39		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107838818	107838818	+	Silent	SNP	C	T	T	rs104886330		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:107838818C>T	uc022ccg.1	+	21	1705	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	COL4A5_uc004enz.1_Silent_p.L501L|COL4A5_uc004eob.1_Silent_p.L109L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	501	Triple-helical region.		Missing (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGCCAGGTCTCCCAGGTCCTC	0.408000									Alport syndrome with Diffuse Leiomyomatosis					30			51		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1616272	1616272	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:1616272G>A	uc002cmb.3	-	15	2153	c.1791C>T	c.(1789-1791)tcC>tcT	p.S597S	IFT140_uc002clz.3_Silent_p.S248S	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	597										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGCAGATTTTGGAATCAGGGC	0.507000														130			74		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11087300	11087300	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:11087300C>T	uc001aru.3	-	10	1735	c.1703G>A	c.(1702-1704)gGa>gAa	p.G568E		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	568	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGATGCAGTTCCAATGTCATC	0.383000														165			81		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525669	248525669	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:248525669G>A	uc001ieh.1	+	0	787	c.787G>A	c.(787-789)Gca>Aca	p.A263T		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GATGAACTCAGCAGAGGGCCG	0.532000														140			80		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045754	142045754	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:142045754C>T	uc003vxp.4	+	1	391	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCACTTATTCCTTCACCTAC	0.502000														692			205		0	0	1	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22923253	22923253	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrY:22923253G>A	uc011nbb.2	+	3	442	c.346G>A	c.(346-348)Gtg>Atg	p.V116M		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	Homo sapiens ribosomal protein S4, Y-linked 2 (RPS4Y2), mRNA.	116					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						TCGTATCACAGTGGAAGAGGC	0.428000														8			35		0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77763385	77763385	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:77763385T>C	uc001dhn.3	+	3	894	c.557T>C	c.(556-558)aTa>aCa	p.I186T	AK5_uc001dho.3_Missense_Mutation_p.I160T|AK5_uc001dhm.2_Missense_Mutation_p.I162T	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	186					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATTGCCAAGATAATTACAACT	0.363000														174			6		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631247	179631247	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:179631247C>T	uc010pnp.2	+	14	2849	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	TDRD5_uc021pfm.1_Silent_p.I723I|TDRD5_uc001gnf.2_Silent_p.I723I|TDRD5_uc021pfn.1_Silent_p.I777I|TDRD5_uc001gnh.2_Silent_p.I278I	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	774					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.E777Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGATGAGATCCCCACTGGAA	0.388000														108			58		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312862	10312862	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:10312862G>A	uc002gmm.2	-	15	1726	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	544	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTTGCCTTAGGGAACATGCA	0.493000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					119			69		0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15725588	15725588	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:15725588C>T	uc003stc.3	-	0	721	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	147					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCCGTAGTCCCCCGGCGCGCA	0.706000														295			66		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100157455	100157455	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:100157455G>A	uc001ygo.3	+	1	157	c.157G>A	c.(157-159)Gat>Aat	p.D53N	CYP46A1_uc001ygn.1_5'UTR	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	53					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TTGGAAAAAGGATGAGGTTGG	0.502000														149			78		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352297	38352297	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:38352297G>A	uc003jlc.2	+	5	756	c.410_splice	c.e5-1	p.D137_splice	EGFLAM_uc003jlb.2_Splice_Site_p.D137_splice	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	137						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCCCACCTAGATTCCTGCCT	0.542000														155			96		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616927	1616927	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:1616927C>T	uc002wfm.1	-	2	720	c.655G>A	c.(655-657)Gac>Aac	p.D219N	SIRPG_uc002wfn.1_Missense_Mutation_p.D219N|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	219	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GAGCGAACGTCCCAGGGGTCC	0.612000														98			60		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846126	18846126	+	RNA	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:18846126G>A	uc002zoe.3	+	4		c.2488G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ACTGGCGCACGATGTAGGGCA	0.617000														66			4		0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460428	1460428	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:1460428C>T	uc002wfg.2	-	1	596	c.368G>A	c.(367-369)gGa>gAa	p.G123E	SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_5'UTR	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	123	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTGGTAGGTTCCAGTGTGCTC	0.488000														136			81		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768440	39768440	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39768440G>A	uc002hxg.4	-	0	640	c.501C>T	c.(499-501)taC>taT	p.Y167Y	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Silent_p.Y167Y	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	167	Linker 1.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TGGTCTTGAAGTAGGGACTGT	0.562000														210			108		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115166	15115166	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:15115166G>A	uc001int.2	+	8	1149	c.895G>A	c.(895-897)Gag>Aag	p.E299K	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.E246K	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	246					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.E299K(2)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TCCTGCGAACGAGAAATTAAT	0.328000														53			22		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1255463	1255463	+	Silent	SNP	G	A	A	rs67578903		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:1255463G>A	uc003jcb.1	-	13	3154	c.3096C>T	c.(3094-3096)ttC>ttT	p.F1032F	TERT_uc003jbz.1_Silent_p.F228F|TERT_uc003jcc.1_Silent_p.F969F|TERT_uc003jca.1_Silent_p.F1020F|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Missense_Mutation_p.P95S|TERT_uc021xwb.1_Silent_p.F184F	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1032	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGACGCGCAGGAAAAATGTGG	0.567000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					45			24		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321071	52321071	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:52321071G>A	uc003xqu.4	-	16	3214	c.3113C>T	c.(3112-3114)cCc>cTc	p.P1038L	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1038					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATTCACGTTGGGGTTGTAGCC	0.527000														30			15		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339798	116339798	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:116339798G>A	uc003vij.3	+	1	847	c.660G>A	c.(658-660)aaG>aaA	p.K220K	MET_uc022akk.1_Silent_p.K220K|MET_uc010lkh.3_Silent_p.K220K|MET_uc011knc.1_Silent_p.K220K|MET_uc011knd.2_Silent_p.K220K|MET_uc011knf.2_Silent_p.K220K|MET_uc011kne.2_Silent_p.K220K|MET_uc011kng.1_Silent_p.K220K|MET_uc011knh.1_Silent_p.K220K|MET_uc011kni.2_Silent_p.K220K|MET_uc003vii.1_Silent_p.K239K|MET_uc010lkg.3_Silent_p.K220K|MET_uc011kmz.1_Silent_p.K220K|MET_uc011kna.1_Silent_p.K220K|MET_uc011knb.1_Silent_p.K220K	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	220	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAGGCTAAAGGAAACGAAAG	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					305			116		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052117	132052117	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:132052117G>A	uc003ytd.4	-	0	719	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	ADCY8_uc010mds.3_Missense_Mutation_p.P155S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	155					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)			CGCAGGGTGGGGAAAATGACC	0.562000										HNSCC(32;0.087)				48			23		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30486859	30486860	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:30486859_30486860GG>AA	uc002dyi.4	+	3	461_462	c.285_286GG>AA	c.(283-288)ttggga>ttAAga	p.G96R	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Missense_Mutation_p.G96R|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	96					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCAAGTACTTGGGAATGACCTT	0.500000														119			51		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142568566	142568566	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:142568566G>A	uc011kst.2	+	19	3762	c.2975G>A	c.(2974-2976)gGc>gAc	p.G992D	EPHB6_uc011ksu.2_Missense_Mutation_p.G992D|EPHB6_uc003wbs.3_Missense_Mutation_p.G700D|EPHB6_uc003wbt.3_Missense_Mutation_p.G466D|EPHB6_uc003wbu.3_Missense_Mutation_p.G700D|EPHB6_uc003wbv.3_Missense_Mutation_p.G376D	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	992	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.I991I(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTGCCCTGGGCATCACCCTG	0.617000														186			5		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281422	125281422	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:125281422G>A	uc011lyw.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTGTCAGCATGAAGAGGGAGA	0.478000														100			50		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69299374	69299374	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:69299374G>A	uc009xpn.1	-	3	469	c.346C>T	c.(346-348)Cca>Tca	p.P116S	CTNNA3_uc001jmw.2_Missense_Mutation_p.P116S|CTNNA3_uc001jmx.4_Missense_Mutation_p.P116S|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Missense_Mutation_p.P128S	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	116					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCCCTTTTTGGGAGAAAACAG	0.458000														80			51		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043300	74043300	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:74043300C>T	uc002sjr.1	+	2	2071	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	650										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAACTGGATTCTCTTCCTCCA	0.512000														89			38		0	0	1	0	0
NTF4	4909	broad.mit.edu	37	19	49564946	49564946	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:49564946C>T	uc002pmf.4	-	1	445	c.309G>A	c.(307-309)tgG>tgA	p.W103*	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Nonsense_Mutation_p.W103*	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	103					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGTCTGTCACCCAGCCACTGA	0.692000														79			39		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759927	196759927	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:196759927G>A	uc002utj.4	-	29	4770	c.4669C>T	c.(4669-4671)Cct>Tct	p.P1557S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1557					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTACCCCAGGAAACAAATCC	0.318000														63			38		0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136423	64136423	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:64136423C>T	uc001jmc.2	+	1	786	c.471C>T	c.(469-471)ttC>ttT	p.F157F	ZNF365_uc001jly.4_Silent_p.F172F|ZNF365_uc001jmb.4_Silent_p.F157F|ZNF365_uc001jlz.4_Silent_p.F157F|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAGCTTCTTTCGAGGCACATG	0.502000														122			56		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67871439	67871439	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:67871439G>A	uc002lkp.2	-	2	348	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.R94W	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	94							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATTAGACCGAAGCTTAGAT	0.423000														172			77		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137775168	137775168	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:137775168C>T	uc004cfg.1	+	2	245	c.235C>T	c.(235-237)Cct>Tct	p.P79S	FCN2_uc004cfh.1_Missense_Mutation_p.P41S	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	79	Collagen-like.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCCCCCTGGACCTCCTGGGAA	0.612000														106			50		0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47563623	47563623	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:47563623C>T	uc003oyw.3	+	11	1591	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	379	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GGAACAGAAACCTTCTAAACC	0.353000														495			135		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30946900	30946900	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:30946900C>T	uc009yjk.1	-	10	1366	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.G92R	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	64					intracellular signal transduction			p.G64R(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						ATTTCCTTCCCCTTTTCATTG	0.353000														172			110		0	0	1	0	0
GALNT4	8693	broad.mit.edu	37	12	89916703	89916703	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:89916703G>A	uc001tbd.3	-	0	1881	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.P539S|GALNT4_uc010suo.2_Missense_Mutation_p.P370S	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	542	Ricin B-type lectin.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CCTGAGTGTGGGTGAAAAATA	0.403000														36			100		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087839	57087839	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:57087839G>A	uc001njr.3	-	1	754	c.442C>T	c.(442-444)Cct>Tct	p.P148S	TNKS1BP1_uc001njs.3_Missense_Mutation_p.P148S|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	148	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGGCGGAAAGGGGCAGGGGCC	0.662000														128			62		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118486082	118486082	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:118486082C>T	uc010oxe.1	+	10	1227	c.1161C>T	c.(1159-1161)aaC>aaT	p.N387N	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	387						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGCAGAACAACCTGGTGGAAT	0.453000														45			22		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40392041	40392042	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:40392041_40392042CT>TC	uc002rrx.3	-	6	2145_2146	c.2121_2122AG>GA	c.(2119-2124)ggagag>ggGAag	p.E708K	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.E703K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E700K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E695K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E672K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E672K	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	708					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTGGTGTGCTCTCCCAGGATGG	0.510000														166			92		0	0	1	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131541	142131541	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:142131541C>T	uc010lnz.1	-	1	258	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGTCTCTCTTCCTCCTCATAA	0.522000														95			107		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52609991	52609992	+	Missense_Mutation	DNP	GG	AA	AA	rs145559755		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:52609991_52609992GG>AA	uc002lfs.3	-	2	203_204	c.31_32CC>TT	c.(31-33)ccc>TTc	p.P11F	CCDC68_uc002lft.3_Missense_Mutation_p.P11F	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	11										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ATCCCTTGGGGGAATTTCTGTG	0.386000														88			39		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104164796	104164796	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:104164796C>T	uc001kvg.1	-	13	2941	c.2414G>A	c.(2413-2415)gGg>gAg	p.G805E	PSD_uc001kvh.1_Missense_Mutation_p.G426E|PSD_uc009xxd.1_Missense_Mutation_p.G805E	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	805	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AAGGGCCTTCCCAGGCTTGTA	0.607000														70			22		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125626694	125626694	+	Silent	SNP	A	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:125626694A>G	uc001uhc.3	+	17	2144	c.1938A>G	c.(1936-1938)aaA>aaG	p.K646K	AACS_uc001uhd.3_Missense_Mutation_p.S579G|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.K244K	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	646					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCGCTGGAAAAGCCGTGGAGC	0.532000														209			5		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834477	101834477	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:101834477G>A	uc003knn.3	-	0	244	c.72C>T	c.(70-72)gcC>gcT	p.A24A	SLCO6A1_uc003kno.3_Silent_p.A24A|SLCO6A1_uc003knp.3_Silent_p.A24A|SLCO6A1_uc003knq.3_Silent_p.A24A	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	24						integral to membrane|plasma membrane	transporter activity	p.A24A(2)|p.E23fs*29(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGGCCCGCGCGGCCTCCAGCG	0.652000														257			149		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626674	43626674	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:43626674C>T	uc011lrb.2	-	3	2042	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	671						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GGGTCTCACCCAGAATTTGCC	0.552000														55			95		0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168439361	168439361	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:168439361T>G	uc003qwk.1	+	4	708	c.446T>G	c.(445-447)gTg>gGg	p.V149G	KIF25_uc003qwl.1_Missense_Mutation_p.V149G	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	149	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AAGCGTGAGGTGGTGACAGCC	0.542000														92			41		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823774	38823774	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:38823774G>A	uc003avs.1	-	1	461	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	KCNJ4_uc003avt.1_Silent_p.L122L|KCNJ4_uc021wpp.1_Silent_p.L122L	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	122					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AAGGCACCCAGGAAGCCGTTC	0.706000														117			42		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540186	169540186	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:169540186G>A	uc003fgb.3	+	0	477	c.477G>A	c.(475-477)aaG>aaA	p.K159K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	159			K -> E (in dbSNP:rs16854411).							breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCTGCCCAAGGAAATAGTGA	0.502000														102			54		0	0	1	0	0
FAM109B	150368	broad.mit.edu	37	22	42473393	42473393	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:42473393C>T	uc003bbz.3	+	2	283	c.96C>T	c.(94-96)acC>acT	p.T32T	FAM109B_uc021wqi.1_Silent_p.T32T|C22orf32_uc003bca.3_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.	32	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GCCCAGGGACCCCACCGACCC	0.647000														170			98		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895366	24895367	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:24895366_24895367GG>AA	uc001upj.3	+	3	523_524	c.462_463GG>AA	c.(460-465)atgggc>atAAgc	p.154_155MG>IS	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	154	Collagen-like 2.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CGGGCCCCATGGGCCCTATTGG	0.629000														11			22		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64521976	64521976	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:64521976C>T	uc003jtp.3	-	15	2818	c.2004G>A	c.(2002-2004)gcG>gcA	p.A668A	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.A289A	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	668					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CATCGATCACCGCAGGAGCAC	0.438000														99			47		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695008	49695008	+	Silent	SNP	C	T	T	rs140023119	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:49695008C>T	uc003cxe.4	+	4	8133	c.8019C>T	c.(8017-8019)tcC>tcT	p.S2673S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2673					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTGACTGCTCCGTGCAGACGG	0.612000														98			37		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259348	43259348	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:43259348G>A	uc002ouo.2	-	3	878	c.780C>T	c.(778-780)ttC>ttT	p.F260F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.F260F|PSG8_uc010ein.3_Silent_p.F138F|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	260	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTCACAGGTGAAGTTTAAGA	0.473000														308			160		0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49651415	49651415	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:49651415C>T	uc002pmr.3	+	23	3243	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.R830C|PPFIA3_uc002pmt.3_Missense_Mutation_p.R110C|PPFIA3_uc002pmu.1_Missense_Mutation_p.R20C	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	971	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCCCCAATACCGCAGCTACTT	0.587000														130			75		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241715	60241715	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:60241715C>T	uc002lip.4	+	12	2401	c.2401C>T	c.(2401-2403)Cca>Tca	p.P801S	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.P271S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	801					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AACCTTCCTTCCACACAGTAG	0.488000														73			40		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49731062	49731062	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:49731062C>T	uc002itv.4	-	5	1255	c.519G>A	c.(517-519)acG>acA	p.T173T	CA10_uc002itw.4_Silent_p.T167T|CA10_uc002itx.4_Silent_p.T167T|CA10_uc002ity.4_Silent_p.T167T|CA10_uc002itz.2_Silent_p.T167T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	167					brain development			p.T167T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CTGTGACATTCGTATATAGCT	0.398000														91			38		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139203969	139203969	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:139203969C>T	uc003qif.2	+	15	2314	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F	ECT2L_uc021zfx.1_Silent_p.F663F|ECT2L_uc011edq.1_Silent_p.F594F	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	663	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATACCAATTTCTTCAACAATT	0.408000			"""N, Splice, Mis"""		ETP ALL									67			34		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876505	74876505	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:74876505C>T	uc001xpx.2	-	2	192	c.-56_splice	c.e2-1			NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.						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						TCCTCAGAGCCTGTCAGAAGA	0.602000														34			14		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651483	1651483	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:1651483G>C	uc001lty.3	+	0	451	c.413G>C	c.(412-414)gGc>gCc	p.G138A	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	138	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G138A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.692000														262			7		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886021	70886021	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:70886021G>A	uc003tvy.3	+	4	892	c.892G>A	c.(892-894)Gag>Aag	p.E298K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	298						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTACAGCTGGGAGCTGTGGTG	0.597000														181			67		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102498652	102498652	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:102498652C>T	uc001yks.2	+	51	10091	c.9927C>T	c.(9925-9927)tcC>tcT	p.S3309S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3309	Stalk (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGTGAGGTCCATGGCCAACC	0.582000														257			124		0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53331516	53331516	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:53331516G>A	uc001xac.3	-	10	1515	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	FERMT2_uc001xad.3_Silent_p.L443L|FERMT2_uc001xae.3_Silent_p.L443L|FERMT2_uc001xaf.3_Silent_p.L443L	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	443	FERM.|PH.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTGGAATCAGGAGTTTAATGT	0.308000														154			91		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105167268	105167268	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:105167268C>T	uc004emd.3	+	17	3072	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L	NRK_uc010npc.1_Silent_p.L591L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	923	Asp-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATGTTGAACTCTATGATGCCA	0.423000										HNSCC(51;0.14)				7			24		0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41939197	41939197	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:41939197C>T	uc002iem.3	+	6	986	c.917C>T	c.(916-918)gCc>gTc	p.A306V		NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	306						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)		CCTTCCCAGGCCCCTGAGGGG	0.607000														37			10		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363351	10363351	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:10363351C>T	uc002gmn.3	-	13	1445	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	445	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGTTGATGCGGGTGACCAT	0.478000														393			6		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12089857	12089857	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:12089857C>T	uc001ato.2	+	6	1144	c.751C>T	c.(751-753)Ccg>Tcg	p.P251S		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	251	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCGCCTGTTCCCGGTGCCTGT	0.687000														35			15		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092722	53092722	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:53092722C>T	uc003xqz.2	-	3	393	c.237G>A	c.(235-237)gaG>gaA	p.E79E	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.E44E|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.E79E|ST18_uc003xrb.2_Silent_p.E79E|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	79						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCCATCGTCCTCTGTCCTGT	0.537000														238			126		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694231	67694231	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:67694231G>A	uc002etq.4	-	0	488	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ACD_uc002etp.4_Missense_Mutation_p.L51F|ACD_uc002etr.4_Missense_Mutation_p.L51F|ACD_uc010vjt.1_Missense_Mutation_p.L41F|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCGGAGGAGGAGGCCCCGC	0.741000														52			31		0	0	1	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696659	112696659	+	Silent	SNP	A	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:112696659A>G	uc010qrh.1	-	0	355	c.333T>C	c.(331-333)ccT>ccC	p.P111P	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.P111P(1)									TCTTGTCGTAAGGCGGTGGGA	0.577000														44			6		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117188861	117188861	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:117188861C>T	uc003vjd.3	+	9	1508	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	459	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTTGCTGGATCCACTGGAGCA	0.393000									Cystic Fibrosis					14			21		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169637340	169637340	+	Silent	SNP	C	T	T	rs151002058		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:169637340C>T	uc003fgd.3	+	2	321	c.54C>T	c.(52-54)atC>atT	p.I18I	SAMD7_uc003fge.3_Silent_p.I18I|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	18										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCCCACTGATCCCCTCACCAT	0.428000														91			62		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756800	54756800	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:54756800G>A	uc010yer.1	-	8	1492	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.L470L|LILRB5_uc002qez.3_Silent_p.L370L|LILRB5_uc002qex.3_Silent_p.L469L|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	469					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		aACAGCAGCAGGACGAAGGCC	0.597000														86			35		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890695	15890695	+	RNA	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:15890695C>T	uc002nbo.3	-	0		c.104G>A								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		GCCCGAGGCCCAGCCAGGACA	0.672000														37			19		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29559101	29559101	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:29559101C>T	uc002hgg.3	+	24	3591	c.3208C>T	c.(3208-3210)Cag>Tag	p.Q1070*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1070*|NF1_uc010csn.2_Nonsense_Mutation_p.Q930*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q103*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1070					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATTTGGACCAGGCAAGCAT	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				19			6		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380283	107380283	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:107380283A>G	uc011lvr.2	-	0	203	c.203T>C	c.(202-204)tTc>tCc	p.F68S		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GATGTCCAAGAAGGAGAGGTT	0.473000														224			5		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105945750	105945750	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:105945750G>A	uc001kxw.3	-	14	2108	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	WDR96_uc009xxq.3_5'UTR|WDR96_uc001kxx.4_Silent_p.I665I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	664										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAACGTCTCGGATACACAGAA	0.323000														84			26		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43908304	43908304	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:43908304G>A	uc010dap.3	+	8	1120	c.855G>A	c.(853-855)gaG>gaA	p.E285E	CRHR1_uc010wjx.2_Silent_p.E81E|CRHR1_uc002ijp.3_Silent_p.E155E|CRHR1_uc002ijm.3_Silent_p.E256E|CRHR1_uc002ijn.3_Silent_p.E216E|CRHR1_uc010dar.3_Silent_p.E256E|CRHR1_uc010dao.3_Silent_p.E155E|CRHR1_uc010daq.3_Silent_p.E81E|CRHR1_uc021tyu.1_Silent_p.E81E	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	285					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACGACAATGAGAAGTAAGTCA	0.592000														80			33		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:952220A>C	uc003gbq.3	+	10	1549	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_uc003gbs.3_Missense_Mutation_p.H367P|TMEM175_uc003gbt.3_Missense_Mutation_p.H367P|TMEM175_uc003gbr.3_Missense_Mutation_p.H402P	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	484						integral to membrane		p.H484P(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736000														29			8		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56064073	56064073	+	RNA	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:56064073C>T	uc010giu.3	-	3		c.610G>A			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTTAGGATCTCCTTTGCCCAT	0.493000														96			25		0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44450147	44450147	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr21:44450147C>T	uc002zcq.1	+	10	1435	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	PKNOX1_uc011aex.1_Missense_Mutation_p.A299V	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	416							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GAGGAGGATGCGGGTGCCCTG	0.632000														147			4		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37226133	37226133	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:37226133G>A	uc002hrg.2	-	12	1571	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.S149S|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	453					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGCAGCATTGGATGTGGGGT	0.617000											OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			29		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944499	95944499	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:95944499C>T	uc002suk.3	+	8	1214	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	PROM2_uc002suh.2_Silent_p.L361L|PROM2_uc002sui.3_Silent_p.L361L|PROM2_uc002suj.3_Silent_p.L15L|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	361						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTTCCAGCCCTGGCTGCCAT	0.632000														96			46		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127684	93127684	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:93127684G>A	uc001pdq.3	+	9	1201	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	CCDC67_uc001pdo.1_Silent_p.R367R|CCDC67_uc001pdp.3_Silent_p.R367R	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	367										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)				AAAGAATGAGGAATGAAATCT	0.398000														12			11		0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45593792	45593792	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:45593792G>A	uc003bfv.1	-	7	1266	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	KIAA0930_uc003bfx.1_Silent_p.S351S|KIAA0930_uc010gzw.1_Silent_p.S203S|KIAA0930_uc003bfw.1_Silent_p.S356S|KIAA0930_uc010gzx.2_Silent_p.S333S	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	351							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCCCGACAGGGACCGAGACC	0.607000														114			35		0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055149	17055149	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:17055149C>T	uc003wxe.3	+	4	829	c.432C>T	c.(430-432)tcC>tcT	p.S144S		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	144						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ATCACTGCTCCGTCTGTGATA	0.388000														187			86		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138030223	138030223	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:138030223C>T	uc002tva.1	+	9	2294	c.2294C>T	c.(2293-2295)cCt>cTt	p.P765L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P655L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTGTGTCCTGTATATCGG	0.378000														21			14		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583283	7583283	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:7583283A>G	uc003mxp.1	+	23	6067	c.5788A>G	c.(5788-5790)Aca>Gca	p.T1930A	DSP_uc003mxq.1_Missense_Mutation_p.T1331A|DSP_uc021yle.1_Missense_Mutation_p.T1487A	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1930	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAGTTAGAAACAGAACGCTC	0.507000														155			57		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108778663	108778663	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:108778663C>T	uc003dxl.3	-	11	1108	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	MORC1_uc011bhn.2_Missense_Mutation_p.E341K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	341					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTGTTTCTCTTTAAGATTC	0.368000														32			13		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7848279	7848279	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:7848279C>T	uc001aop.3	+	3	789	c.565C>T	c.(565-567)Cct>Tct	p.P189S	PER3_uc009vmg.1_Missense_Mutation_p.P189S|PER3_uc009vmh.1_Missense_Mutation_p.P189S|PER3_uc001aoo.3_Missense_Mutation_p.P189S|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.P189S	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCAGCTTCCTTTCTGGAA	0.453000														89			47		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91308570	91308570	+	Missense_Mutation	SNP	C	T	T	rs146077918	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:91308570C>T	uc002bpr.3	+	8	2216	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S	BLM_uc010uqh.2_Missense_Mutation_p.P707S|BLM_uc010uqi.2_Missense_Mutation_p.P332S|BLM_uc010bnx.3_Missense_Mutation_p.P707S	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	707	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGTGTTTCTCCTGGGGTCAC	0.393000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					82			32		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993479	140993479	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:140993479C>T	uc004fbt.3	+	3	613	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	97							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCCTCTCCAGAATTCTCA	0.572000										HNSCC(15;0.026)				48			88		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221397	55221397	+	RNA	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:55221397G>A	uc002qgs.1	+	0		c.1797G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CCCCTGGGGAGAATCTGACCC	0.627000														52			41		0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	742399	742399	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:742399C>T	uc002wed.4	-	3	1482	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A	SLC52A3_uc002wee.2_Silent_p.A381A	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	381					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GGCTCATCACCGCCATGGCCA	0.642000														61			32		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3344764	3344764	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:3344764C>T	uc003ggw.3	+	2	2886	c.1982C>T	c.(1981-1983)tCc>tTc	p.S661F	RGS12_uc003ggu.2_Missense_Mutation_p.S661F|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.S661F|RGS12_uc003ggy.1_Missense_Mutation_p.S59F|RGS12_uc003ggx.1_Missense_Mutation_p.S661F	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	661						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCACTCGCTCCCTTGATGAT	0.428000														25			28		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212578266	212578266	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:212578266G>A	uc002veg.1	-	7	1089	c.991C>T	c.(991-993)Cca>Tca	p.P331S	ERBB4_uc002veh.1_Missense_Mutation_p.P331S|ERBB4_uc010zji.1_Missense_Mutation_p.P331S|ERBB4_uc010zjj.1_Missense_Mutation_p.P331S|ERBB4_uc010fut.1_Missense_Mutation_p.P331S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	331	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCACCTTTTGGGCAAATGTCA	0.378000										TSP Lung(8;0.080)				34			22		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234454596	234454596	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:234454596C>T	uc001hvy.1	+	5	1199	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	SLC35F3_uc001hwa.1_Missense_Mutation_p.P283S	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	283					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CACCTGCATTCCTATTATCCT	0.418000														160			108		0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38126129	38126129	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:38126129A>T	uc002ogv.1	-	5	1829	c.1313T>A	c.(1312-1314)tTt>tAt	p.F438Y	ZFP30_uc002ogw.1_Missense_Mutation_p.F438Y|ZFP30_uc002ogx.1_Missense_Mutation_p.F438Y|ZFP30_uc010xtt.1_Missense_Mutation_p.F437Y	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTACACTTAAAGGGTTTCTC	0.383000														87			4		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274614	238274614	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:238274614C>T	uc002vwl.2	-	11	5850	c.5565G>A	c.(5563-5565)caG>caA	p.Q1855Q	COL6A3_uc002vwo.2_Silent_p.Q1649Q|COL6A3_uc010znj.1_Silent_p.Q1248Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1855	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGAAGCCCTTCTGGGCCACAA	0.537000														171			100		0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186395478	186395478	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:186395478C>T	uc003fqq.3	+	6	1407	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	462	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GTACCGACTCCCTCCTCTAAG	0.557000														128			55		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499504	34499504	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:34499504C>T	uc003ojo.3	+	8	1423	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	PACSIN1_uc003ojp.3_Missense_Mutation_p.R389C	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	389	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CAAGGGAGTGCGCGTGCGGGC	0.652000														605			6		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721860	198721860	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:198721860G>A	uc001gur.1	+	30	3642	c.3462G>A	c.(3460-3462)ggG>ggA	p.G1154G	PTPRC_uc001gut.1_Silent_p.G993G	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1154	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTCTGAAGGGAACAAGCATC	0.448000														54			30		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184700355	184700355	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:184700355C>T	uc021xik.1	+	40	3509	c.3421_splice	c.e40-1	p.A1141_splice	VPS8_uc003fpb.1_Splice_Site_p.A1139_splice|VPS8_uc010hyd.1_Splice_Site_p.A1049_splice|VPS8_uc010hye.1_Splice_Site_p.A568_splice	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1141							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACATTATAGGCACTTTGGTTT	0.373000														63			24		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752996	51752996	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:51752996G>A	uc001ryk.2	-	6	1513	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R430C|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	430					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGCCAGGCGCACTTGATTG	0.542000														558			6		0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159659148	159659148	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:159659148C>T	uc003lya.1	+	1	239	c.111C>T	c.(109-111)atC>atT	p.I37I	FABP6_uc003lxx.1_Silent_p.I86I|FABP6_uc003lxz.1_Silent_p.I86I|HI423497_uc021ygz.1_Non-coding_Transcript	NM_001445	NP_001436	P51161	FABP6_HUMAN	Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA.	37					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTCAAGATCGTCACGGAGG	0.542000														42			19		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825297	74825297	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:74825297C>T	uc021rwl.1	+	0	1811	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	VRTN_uc001xpw.4_Missense_Mutation_p.S604F	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	604					transposition, DNA-mediated		DNA binding|transposase activity	p.S604S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGAGGGCCTTCCAGAGAGGGG	0.662000														90			56		0	0	1	0	0
SPRR1B	6699	broad.mit.edu	37	1	153005005	153005005	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:153005005C>T	uc001fba.3	+	1	248	c.184C>T	c.(184-186)Cca>Tca	p.P62S	SPRR1B_uc021ozp.1_Missense_Mutation_p.P62S	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	62	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	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)			GCCCAAGGTTCCAGAGCCATG	0.617000														214			95		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547135	132547135	+	Silent	SNP	G	A	A	rs144787206	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:132547135G>A	uc001ujn.3	+	46	8375	c.8223G>A	c.(8221-8223)caG>caA	p.Q2741Q	EP400_uc021rgq.1_Silent_p.Q2740Q|EP400_uc001ujm.3_Silent_p.Q2660Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2777	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)		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)		agcagcagcagcaacagcagc	0.592000														132			5		0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926248	112926248	+	Splice_Site	SNP	G	A	A	rs121918468		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:112926248G>A	uc001ttx.3	+	12	1760	c.1380_splice	c.e12-1	p.S460_splice		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	464	Tyrosine-protein phosphatase.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TGCCCGCAGTGCTGGAATTGG	0.453000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					60			118		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968230	106968230	+	Silent	SNP	A	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:106968230A>C	uc003prh.3	+	1	2835	c.1923A>C	c.(1921-1923)acA>acC	p.T641T		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	641							sugar binding	p.R640K(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCAGCAGAACACCCCTGATGG	0.527000														106			50		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73072215	73072215	+	RNA	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:73072215G>A	uc004ebm.1	-	0		c.374C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CAGCCCCGATGGGCAAAATAT	0.398000														2			17		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709333	176709333	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:176709333G>A	uc001gkz.3	+	14	5315	c.4151_splice	c.e14+1	p.S1384_splice	PAPPA2_uc009www.3_Splice_Site	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1384					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGGGACAGAGGTACAAACTTC	0.453000														33			17		0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38126125	38126125	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:38126125C>T	uc002ogv.1	-	5	1833	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	ZFP30_uc002ogw.1_Silent_p.K439K|ZFP30_uc002ogx.1_Silent_p.K439K|ZFP30_uc010xtt.1_Silent_p.K438K	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCCTTACACTTAAAGGGTT	0.388000														87			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585110	158585110	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:158585110G>A	uc001fst.1	-	47	6883	c.6684C>T	c.(6682-6684)atC>atT	p.I2228I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2228					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATATCAAGGATCAGAGCGT	0.507000														256			128		0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57484943	57484943	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:57484943T>C	uc001smz.3	+	1	497	c.119T>C	c.(118-120)cTg>cCg	p.L40P		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	40	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCTCGGACGCTGGGGGAGCTG	0.637000														141			70		0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132638502	132638502	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:132638502C>T	uc004bys.2	+	21	2605	c.2394C>T	c.(2392-2394)atC>atT	p.I798I	USP20_uc004byr.2_Silent_p.I798I|USP20_uc004byt.1_Silent_p.I798I	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	798	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGATCGAGATCGACACCTTCA	0.667000														33			16		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159900109	159900109	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:159900109G>A	uc001fur.2	-	14	2132	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	IGSF9_uc001fuq.2_Missense_Mutation_p.P629L|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	645	Fibronectin type-III 2.					cell junction|integral to membrane|synapse		p.R645W(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCTCTGGGGGATCCCAATG	0.672000														225			88		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598157	49598157	+	Silent	SNP	G	T	T	rs149610491	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:49598157G>T	uc010rhy.2	+	1	748	c.270G>T	c.(268-270)tcG>tcT	p.S90S	LOC440040_uc009ymb.3_Silent_p.S90S					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TCATTTCTTCGGAAGAGGAAG	0.532000														34			9		3.27435e-08	3.30359e-08	1	1	0
BMP2K	55589	broad.mit.edu	37	4	79782555	79782555	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:79782555C>T	uc003hlk.3	+	8	1166	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.P334S	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	334						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTCTTCTATTCCTTCAGCTCT	0.338000														21			11		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196795969	196795969	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:196795969C>T	uc001gtn.3	+	2	378	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	88	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GACTGTGTTTCTTTCCTTTTG	0.348000														96			43		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39052033	39052033	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:39052033G>A	uc002oit.3	+	89	12693	c.12563G>A	c.(12562-12564)cGc>cAc	p.R4188H	RYR1_uc002oiu.3_Missense_Mutation_p.R4183H|RYR1_uc002oiv.1_Missense_Mutation_p.R1097H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4188					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGTCACGCCGCATCGAGCGC	0.652000														159			4		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79769642	79769642	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:79769642G>A	uc001jzn.3	-	12	1883	c.1750C>T	c.(1750-1752)Cca>Tca	p.P584S		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	584					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTAGGCGGTGGGAGGCGAACT	0.483000														80			46		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61309021	61309021	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:61309021G>A	uc002ljf.3	-	3	410	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SERPINB3_uc002lje.3_Silent_p.F108F|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	108					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTTCTCCGAAGAGCTTGT	0.413000														191			97		0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:3649787T>C	uc001qmf.3	+	1	458	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_uc009zed.3_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000														164			13		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55516975	55516975	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:55516975G>A	uc002ehz.4	+	1	619	c.308G>A	c.(307-309)gGc>gAc	p.G103D	MMP2_uc010vhd.2_Missense_Mutation_p.G27D|MMP2_uc010ccc.3_Missense_Mutation_p.G53D	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	103					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCACGCTGCGGCAACCCAGAT	0.557000														202			5		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164053	141164053	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:141164053G>A	uc010hup.3	+	1	2873	c.2826G>A	c.(2824-2826)aaG>aaA	p.K942K	ZBTB38_uc003etw.3_Silent_p.K941K|ZBTB38_uc010hun.3_Silent_p.K938K|ZBTB38_uc010huo.3_Silent_p.K941K|ZBTB38_uc003ety.3_Silent_p.K941K|ZBTB38_uc021xes.1_Silent_p.K941K	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	941					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTGGAGGAAGGAGCACGGAA	0.483000														51			28		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585719	20585719	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:20585719C>T	uc001vwo.1	+	0	154	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51Y(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GACCAGCTCCCAGGATGTAGA	0.433000														260			120		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141924	133141924	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:133141924G>A	uc003ytj.3	-	14	2429	c.2204C>T	c.(2203-2205)cCt>cTt	p.P735L	KCNQ3_uc003yti.3_Missense_Mutation_p.P615L|KCNQ3_uc010mdt.3_Missense_Mutation_p.P723L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	735					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGCTGAGGAAGGAGGAGTTGC	0.577000														42			24		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199970	71199970	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:71199970C>T	uc001xmm.3	-	10	2116	c.2116G>A	c.(2116-2118)Gga>Aga	p.G706R	MAP3K9_uc010ttk.2_Missense_Mutation_p.G434R|MAP3K9_uc001xmk.3_Missense_Mutation_p.G439R|MAP3K9_uc001xml.3_Missense_Mutation_p.G720R	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	706					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCATCCTCTCCACGAGGGAAT	0.592000														86			31		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877893	130877893	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:130877893G>A	uc010fmh.2	-	2	596	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	66						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCAGTGGCGGCACCACTTG	0.602000														598			6		0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258136	97258136	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:97258136G>A	uc003yhs.1	-	5	927	c.849C>T	c.(847-849)ctC>ctT	p.L283L	MTERFD1_uc003yhr.1_Silent_p.L162L|MTERFD1_uc010mbd.1_Silent_p.L283L	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	283					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GCAGCCTTGGGAGACGAACTA	0.358000														87			49		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167713375	167713375	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:167713375C>T	uc011cjq.1	-	5	748	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	SPOCK3_uc021xuf.1_Missense_Mutation_p.E222K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E102K|SPOCK3_uc003iri.1_Missense_Mutation_p.E222K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E171K|SPOCK3_uc003irj.1_Missense_Mutation_p.E219K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E130K|SPOCK3_uc011cjp.2_Intron|SPOCK3_uc011cju.1_Missense_Mutation_p.E126K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E124K|SPOCK3_uc003irk.4_Missense_Mutation_p.E219K	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	222					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTCCACTTTCATGAAGGGCC	0.403000														54			27		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38591829	38591829	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:38591829G>A	uc002ohk.3	+	5	2501	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	664	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTGCCTGAAGGGCTTCACCA	0.597000														12			8		0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57600568	57600568	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:57600568G>A	uc002ely.3	+	6	1127	c.604G>A	c.(604-606)Ggg>Agg	p.G202R	GPR114_uc002elx.4_Missense_Mutation_p.G202R|GPR114_uc010vhr.2_Missense_Mutation_p.G202R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	202	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACAGCCCTGGGGGGGCTGGAG	0.602000														132			65		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266817	48266817	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:48266817C>T	uc001ngs.1	+	0	162	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTACTTCTTCCTCAGCTACC	0.488000														207			69		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695661	196695661	+	Silent	SNP	G	A	A	rs56035657	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:196695661G>A	uc001gtj.4	+	12	2175	c.1935G>A	c.(1933-1935)acG>acA	p.T645T	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	645	Sushi 11.				complement activation, alternative pathway	extracellular space		p.T645T(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGGAAAAAACGAAAGAAGAAT	0.353000														61			46		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69670040	69670040	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:69670040G>A	uc004dyi.2	+	4	1072	c.725G>A	c.(724-726)gGg>gAg	p.G242E	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	242	PDZ 2.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AGCATTGCTGGGGGTATTGGC	0.562000														11			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256320	140256320	+	Silent	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140256320T>C	uc003lic.2	+	0	1390	c.1263T>C	c.(1261-1263)taT>taC	p.Y421Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.Y421Y	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	435	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			TGTCGGCCTATGAGCTGGTGG	0.622000														343			145		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086775	92086775	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:92086775G>A	uc001pdj.4	+	0	1514	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	499	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTCTGATAAGGATAAAGGAG	0.403000										TCGA Ovarian(4;0.039)				16			41		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62941448	62941448	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:62941448T>C	uc001daq.3	-	44	5892	c.5858A>G	c.(5857-5859)aAg>aGg	p.K1953R	DOCK7_uc001dan.3_Missense_Mutation_p.K1816R|DOCK7_uc001dao.3_Missense_Mutation_p.K1814R|DOCK7_uc001dap.3_Missense_Mutation_p.K1933R|DOCK7_uc001dam.3_Missense_Mutation_p.K1135R|DOCK7_uc010oov.1_Missense_Mutation_p.K694R|DOCK7_uc001dar.1_Missense_Mutation_p.K127R	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1964	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAGAATGGTCTTCCTTTTGAA	0.388000														129			86		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	G	G	rs35873108	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:132547138A>G	uc001ujn.3	+	46	8378	c.8226A>G	c.(8224-8226)caA>caG	p.Q2742Q	EP400_uc021rgq.1_Silent_p.Q2741Q|EP400_uc001ujm.3_Silent_p.Q2661Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2778	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(6)|p.Q2742Q(3)		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)		agcagcagcaacagcagcagc	0.602000														129			4		0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58234039	58234039	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:58234039G>A	uc002iym.4	+	2	325	c.231G>A	c.(229-231)aaG>aaA	p.K77K	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	77					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCTACGATAAGAAGCAAACGT	0.567000														116			63		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764304	120764304	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:120764304C>T	uc003eec.4	+	4	532	c.392C>T	c.(391-393)tCa>tTa	p.S131L	STXBP5L_uc011bji.2_Missense_Mutation_p.S131L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	131					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTGCAAGTTCAGATGATACA	0.348000														162			86		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49442984	49442984	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:49442984G>A	uc001rta.4	-	11	3924	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1308	Arg-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						GTCTTCCTGGGAAACTGCTGC	0.537000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				20			4		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009207	120009207	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:120009207G>A	uc011muc.2	-	0	573	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	106										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCGCCAAGTCGAAGTTGGCCG	0.677000														11			32		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581716	140581716	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140581716G>A	uc003liy.3	+	0	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCACCTTTCGAAATAGCTTT	0.318000														41			22		0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99808328	99808328	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:99808328T>A	uc003hue.2	-	4	1824	c.301A>T	c.(301-303)Atg>Ttg	p.M101L	EIF4E_uc011cea.1_Missense_Mutation_p.M121L|EIF4E_uc011ceb.1_Missense_Mutation_p.M101L|EIF4E_uc011cec.1_Missense_Mutation_p.M101L	NM_001968	NP_001959	P06730	IF4E_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E (EIF4E), transcript variant 1, mRNA.	101					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex	RNA cap binding|protein binding|translation initiation factor activity	p.M101I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TCTTCCCACATAGGCTCAATA	0.408000														233			107		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754859	29754859	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:29754859C>T	uc002rmy.3	-	3	2028	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	359	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AATGTACCTTCCAGAGGGCTG	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					95			50		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76949074	76949074	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:76949074C>T	uc001xsr.3	+	6	1130	c.759C>T	c.(757-759)gtC>gtT	p.V253V	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.V253V	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	253						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGCTTGTGGTCATCATTGGCT	0.617000														91			39		0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35858073	35858073	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:35858073G>A	uc001iyw.4	+	9	1181	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	CCNY_uc001iyu.4_Missense_Mutation_p.R280Q|CCNY_uc001iyv.4_Missense_Mutation_p.R280Q|CCNY_uc001iyx.4_Missense_Mutation_p.R280Q|CCNY_uc009xmb.3_Missense_Mutation_p.R309Q|CCNY_uc010qet.2_Missense_Mutation_p.R201Q	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	334					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ACTCTGCCCCGGTGGTCCCCA	0.582000														29			21		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53747113	53747113	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:53747113G>A	uc002qbg.1	-	3	204	c.53C>T	c.(52-54)tCt>tTt	p.S18F	ZNF677_uc002qbf.1_Missense_Mutation_p.S18F|ZNF677_uc002qbh.3_Non-coding_Transcript	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CTCCTCTTGAGAGAATTCTAT	0.458000														113			39		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:186275982C>T	uc001gru.4	+	6	1182	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T336T|PRG4_uc009wyl.3_Silent_p.T284T|PRG4_uc009wym.3_Silent_p.T243T|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000														310			5		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079717	42079717	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:42079717G>A	uc011kbh.2	-	6	1039	c.948C>T	c.(946-948)tcC>tcT	p.S316S	GLI3_uc011kbg.2_Silent_p.S257S	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	316					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCGTGACCAAGGAGTTGGGAG	0.488000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					96			116		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722043	39722043	+	Silent	SNP	A	G	G	rs142402603		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:39722043A>G	uc001wux.3	+	4	1853	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	162						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AAAATTCGAAACCATCAGTAG	0.383000														69			33		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1815985	1815985	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:1815985C>T	uc010uvl.2	+	20	2591	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.P823L|MAPK8IP3_uc002cml.3_Missense_Mutation_p.P813L|MAPK8IP3_uc021tah.1_Missense_Mutation_p.P817L	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	823					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GACTACCCTCCCGGGGAGATG	0.687000														41			23		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103514	113103514	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:113103514G>A	uc021qqp.1	+	12	1944	c.1572G>A	c.(1570-1572)ttG>ttA	p.L524L	NCAM1_uc001pnp.3_Silent_p.L488L|NCAM1_uc021qqo.1_Silent_p.L488L|NCAM1_uc001pnq.3_Silent_p.L498L|NCAM1_uc001pnr.3_Silent_p.L488L	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	500	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGAGTCCTTGGAATTCATCC	0.502000														37			49		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269565	20269565	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:20269565G>A	uc002wru.3	+	22	3223	c.3109G>A	c.(3109-3111)Gga>Aga	p.G1037R	C20orf26_uc002wrw.3_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1037								p.G1037E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATGTACAAGGGAGCCAAGAT	0.512000														28			18		0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3180438	3180438	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:3180438G>A	uc009xhv.2	-	25	3081	c.3012C>T	c.(3010-3012)gcC>gcT	p.A1004A	PITRM1_uc001igr.2_3'UTR|PITRM1_uc001igt.2_Silent_p.A1003A|PITRM1_uc010qah.2_Silent_p.A905A|PITRM1_uc001igu.1_Silent_p.A929A|PITRM1_uc010qai.2_Silent_p.A974A	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	905					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TATCGCTCACGGCCAGGAGCT	0.592000														50			27		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628849	84628849	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:84628849G>A	uc003uic.3	-	16	2281	c.2241C>T	c.(2239-2241)ggC>ggT	p.G747G	SEMA3D_uc010led.3_Silent_p.G747G|SEMA3D_uc003uib.3_Silent_p.G386G	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	747	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCACTTTGGGCCCCCCTTGT	0.498000														103			91		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123595079	123595079	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:123595079C>T	uc003vle.3	+	3	1422	c.983C>T	c.(982-984)aCt>aTt	p.T328I	SPAM1_uc011koa.1_5'UTR|SPAM1_uc003vld.3_Missense_Mutation_p.T328I|SPAM1_uc022aks.1_Missense_Mutation_p.T328I|SPAM1_uc003vlf.4_Missense_Mutation_p.T328I|SPAM1_uc010lku.3_Missense_Mutation_p.T328I	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	328					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.E327K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTTGGCGAAACTGTTGCTCTG	0.368000														281			81		0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19363204	19363204	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:19363204C>T	uc011kyn.2	-	3	1206	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	CSGALNACT1_uc011kyo.2_Missense_Mutation_p.A48T|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Missense_Mutation_p.A48T|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	48					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGGCTGTTGGCCCTGGGCAGT	0.622000														119			4		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760650	7760650	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:7760650C>T	uc002cys.2	+	15	2085	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V	RBFOX1_uc002cyt.2_Missense_Mutation_p.A339V|RBFOX1_uc010uyb.1_Missense_Mutation_p.A366V|RBFOX1_uc002cyw.2_3'UTR|RBFOX1_uc002cyy.2_Missense_Mutation_p.A387V|RBFOX1_uc002cyx.2_Intron|RBFOX1_uc010uyc.1_Missense_Mutation_p.A360V	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	366					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGACTGATGCCAAGACTAGG	0.408000														258			5		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126746621	126746621	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:126746621G>A	uc003vlr.2	-	1	967	c.656C>T	c.(655-657)tCg>tTg	p.S219L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S219L|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	219					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S219S(3)|p.S219L(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCAGTGTCGAAACATAATT	0.493000										HNSCC(24;0.065)				96			42		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500833	66500833	+	RNA	SNP	A	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:66500833A>C	uc004aed.1	+	2		c.926A>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CCATGAAACCACCTGGTGCCC	0.632000														80			5		0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146029233	146029233	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:146029233C>T	uc003ijx.3	+	3	696	c.256C>T	c.(256-258)Cga>Tga	p.R86*	ABCE1_uc003ijy.3_Nonsense_Mutation_p.R86*|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	86	ABC transporter 1.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AACCACACATCGATATTGTGC	0.333000														84			33		0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31550151	31550151	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:31550151C>T	uc003nuk.3	-	0	52	c.44G>A	c.(43-45)gGg>gAg	p.G15E	LTB_uc003nul.3_Missense_Mutation_p.G15E	NM_002341	NP_002332	Q06643	TNFC_HUMAN	Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA.	15					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	GGAACCCCTCCCCTGGAGCCT	0.652000														78			37		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230884	7230884	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:7230884C>T	uc003mxb.3	+	9	3044	c.2552C>T	c.(2551-2553)gCt>gTt	p.A851V	RREB1_uc021yky.1_Missense_Mutation_p.A851V|RREB1_uc003mxc.3_Missense_Mutation_p.A851V|RREB1_uc010jnx.3_Missense_Mutation_p.A851V|RREB1_uc021ykz.1_Missense_Mutation_p.A851V|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	851					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTGGCTGCGCTGCCCTTGGT	0.701000														27			19		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	334816	334816	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:334816C>T	uc002kkm.3	-	5	1957	c.1742G>A	c.(1741-1743)gGc>gAc	p.G581D		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	581	Collagen-like 3.				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	p.P580H(1)		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)				GCCAGGAGGGCCGGGGGGGCC	0.697000														19			16		0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424357	21424357	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:21424357C>T	uc021ros.1	+	0	427	c.427C>T	c.(427-429)Caa>Taa	p.Q143*	RNASE2_uc010aif.2_Nonsense_Mutation_p.Q143*|RNASE2_uc001vyl.1_Nonsense_Mutation_p.Q143*	NM_002934	NP_002925	P10153	RNAS2_HUMAN	Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA.	143					RNA catabolic process|chemotaxis	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CAACAGAGATCAACGACGAGA	0.463000														174			102		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:55417934G>A	uc002qib.2	+	2	162	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_uc002qic.2_Missense_Mutation_p.E42K|NCR1_uc002qie.2_Missense_Mutation_p.E42K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	42	Ig-like 1.				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)		GGTTCCAAAGGAAAAGCAAGT	0.547000														120			75		0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28057200	28057200	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:28057200C>T	uc021yro.1	+	3	2237	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N	ZNF165_uc003nkh.3_Silent_p.N470N|ZNF165_uc003nki.4_Silent_p.N470N|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	470					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGCTCAAACCTTAGTCAAC	0.383000														96			31		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234445036	234445036	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:234445036C>T	uc001hvy.1	+	3	943	c.798C>T	c.(796-798)atC>atT	p.I266I	SLC35F3_uc001hwa.1_Silent_p.I197I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	197					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTCATGGATCGTTCTCAGGG	0.443000														66			26		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47956394	47956394	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:47956394G>A	uc003csb.2	-	7	2438	c.1912C>T	c.(1912-1914)Ccg>Tcg	p.P638S	MAP4_uc003csc.3_Missense_Mutation_p.P638S|MAP4_uc011bbf.1_Missense_Mutation_p.P615S|MAP4_uc003csf.3_Missense_Mutation_p.P655S	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	638					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCCTCGGCCGGCAAGCTGCAC	0.448000														337			6		0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19764458	19764458	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:19764458C>T	uc004czm.3	-	2	580	c.264G>A	c.(262-264)acG>acA	p.T88T	SH3KBP1_uc004czl.3_Silent_p.T51T	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	88					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTCTTAAAATCGTTTCAGAAG	0.423000														27			77		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67399810	67399810	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:67399810C>T	uc001omp.3	-	6	935	c.847G>A	c.(847-849)Ggt>Agt	p.G283S	NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	283					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCTGTGGCACCCTTCAGCACA	0.622000														179			103		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255554	140255554	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140255554C>T	uc003lic.2	+	0	624	c.497C>T	c.(496-498)tCt>tTt	p.S166F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S166F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	181	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A165E(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)			GGCGTAAACTCTCTTTTGACC	0.378000														99			55		0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1854084	1854084	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:1854084C>T	uc001aik.3	-	9	1610	c.760G>A	c.(760-762)Gag>Aag	p.E254K	C1orf222_uc001ail.3_Missense_Mutation_p.E254K			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	254								p.V253A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGCCGCGCTCCACGGAGCCC	0.617000														72			39		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51780227	51780227	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:51780227G>A	uc010ufy.2	-	21	5366	c.5141C>T	c.(5140-5142)tCc>tTc	p.S1714F	DMXL2_uc002abf.3_Missense_Mutation_p.S1714F|DMXL2_uc010bfa.3_Missense_Mutation_p.S1078F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1714						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCAAGTAAGGAAAAAGCATT	0.373000														236			116		0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680759	81680759	+	RNA	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:81680759G>A	uc021puw.1	+	3		c.602G>A			MBL1P_uc001kbg.1_Non-coding_Transcript					Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		GGGCCCCCAGGAAACACAGGG	0.562000														38			12		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197062342	197062343	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:197062342_197062343CC>TT	uc001gtu.3	-	20	9390_9391	c.9133_9134GG>AA	c.(9133-9135)gga>AAa	p.G3045K	ASPM_uc001gtv.3_Missense_Mutation_p.G1460K|ASPM_uc001gtw.4_Missense_Mutation_p.G893K	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3045	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GACCTGCCTTCCTTTATATCCT	0.356000														132			60		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658887	73658887	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:73658887C>T	uc010dgl.3	-	3	652	c.443G>A	c.(442-444)cGc>cAc	p.R148H	RECQL5_uc010dgk.3_Missense_Mutation_p.R121H|RECQL5_uc002joz.4_Missense_Mutation_p.R148H|RECQL5_uc002jpa.4_Missense_Mutation_p.R148H|RECQL5_uc002jpb.2_Missense_Mutation_p.R148H	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	148	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.R121H(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGCAGGTGGCGGGACACCAG	0.572000								Other identified genes with known or suspected DNA repair function						412			7		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130375	153130375	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:153130375G>A	uc004fjb.3	-	21	3055	c.2947C>T	c.(2947-2949)Ctc>Ttc	p.L983F	L1CAM_uc004fjc.3_Missense_Mutation_p.L983F|L1CAM_uc010nuo.3_Missense_Mutation_p.L978F	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	983	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGGCTGAGATCGGTCAGG	0.622000														62			154		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097220	107097220	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:107097220C>T	uc003dwi.1	+	0	1033	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	262										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GGACATTTTTCCTCAGTGCTA	0.413000														124			62		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339673	131339673	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:131339673C>T	uc004bvl.4	+	7	1115	c.973C>T	c.(973-975)Cac>Tac	p.H325Y	SPTAN1_uc011mbg.2_Missense_Mutation_p.H325Y|SPTAN1_uc011mbh.2_Missense_Mutation_p.H337Y|SPTAN1_uc004bvm.4_Missense_Mutation_p.H325Y|SPTAN1_uc004bvn.4_Missense_Mutation_p.H325Y	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	325					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAACAGTCCCACCCTCTGAG	0.507000														102			52		0	0	1	0	0
C9orf69	90120	broad.mit.edu	37	9	139008662	139008662	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:139008662G>A	uc004cgx.4	-	1	610	c.159C>T	c.(157-159)tgC>tgT	p.C53C	C9orf69_uc004cgy.2_Non-coding_Transcript	NM_152833	NP_690046			Homo sapiens chromosome 9 open reading frame 69 (C9orf69), mRNA.											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		TGGGAGGCGCGCACGGGCCCG	0.672000														70			4		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106555057	106555057	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:106555057G>A	uc003prd.2	+	6	2408	c.2174G>A	c.(2173-2175)cGa>cAa	p.R725Q	PRDM1_uc003pre.3_Missense_Mutation_p.R591Q	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	725					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L724L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GATCTGACCCGAATCAATGAA	0.532000			"""D, N, Mis, F, S"""		DLBCL									431			178		0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58757768	58757768	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:58757768G>A	uc002eof.1	-	1	242	c.128C>T	c.(127-129)cCc>cTc	p.P43L	GOT2_uc010vim.1_Missense_Mutation_p.P43L	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	43					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCCCAGAATGGGATCTGGAGG	0.448000														128			61		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979494	12979494	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:12979494G>A	uc002mvm.3	+	20	2732	c.2604G>A	c.(2602-2604)tcG>tcA	p.S868S		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	868					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCACCCTCGAAGGATGGGG	0.577000														221			108		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21526111	21526111	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:21526111G>A	uc002kuq.3	+	69	9300	c.9214G>A	c.(9214-9216)Gtg>Atg	p.V3072M	LAMA3_uc002kur.3_Missense_Mutation_p.V3016M|LAMA3_uc002kus.4_Missense_Mutation_p.V1463M|LAMA3_uc002kut.4_Missense_Mutation_p.V1407M	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3072	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGAAGGTGGTGTTTGGCCA	0.433000														171			54		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48703495	48703495	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:48703495G>A	uc001zwx.2	-	65	8703	c.8308C>T	c.(8308-8310)Cac>Tac	p.H2770Y	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2770					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTACTGACGTGGGAAATATTG	0.433000														152			80		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10107320	10107320	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:10107320C>T	uc002mmq.1	-	11	1395	c.1309G>A	c.(1309-1311)Ggc>Agc	p.G437S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	437	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCGGTGGGCCTCGGATCCCA	0.642000														61			24		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633452	39633452	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39633452G>A	uc002hws.3	-	6	1267	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	408	Tail.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGTTACAGGGGAGCCTAGAAA	0.488000														78			33		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40955635	40955635	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:40955635C>T	uc003jmh.3	+	9	1354	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	414	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GACTAATCTTCCTCAAGTCAT	0.413000														121			51		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201039511	201039511	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:201039511G>C	uc001gvv.3	-	16	2476	c.2249C>G	c.(2248-2250)cCt>cGt	p.P750R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	750					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGGGATCTCAGGCTCATCTTC	0.587000														124			57		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949597	38949597	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:38949597C>T	uc021wvy.1	-	9	1515	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	439					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)	TCTGTCAATTCCCATGGCAAC	0.383000														115			57		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579419	82579419	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:82579419C>T	uc003uhx.2	-	5	10774	c.10485G>A	c.(10483-10485)ggG>ggA	p.G3495G	PCLO_uc003uhv.2_Silent_p.G3495G|PCLO_uc010lec.3_Silent_p.G460G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3426					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACCATATTTCCCTACACGAG	0.458000														143			46		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971321	57971321	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:57971321G>A	uc010rkb.2	-	0	333	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C110F(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				ACATCTGTGTGATGCAGCTCT	0.448000														196			82		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206953	58206953	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:58206953C>T	uc010rkh.2	-	0	694	c.672G>A	c.(670-672)atG>atA	p.M224I		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCGCATCTTCATGATGGTGA	0.398000														84			32		0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171759716	171759716	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:171759716C>T	uc001ghz.3	+	4	1781	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	METTL13_uc001gia.3_Silent_p.I392I|METTL13_uc001gib.3_Silent_p.I322I|METTL13_uc010pml.2_Silent_p.I477I	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.	478							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AAGCCATGATCGCTGGCCTTG	0.542000														124			57		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96009900	96009900	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:96009900C>T	uc004ati.1	+	6	1618	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	WNK2_uc011lud.1_Nonsense_Mutation_p.Q540*|WNK2_uc004atj.3_Nonsense_Mutation_p.Q540*|WNK2_uc004atk.3_Nonsense_Mutation_p.Q177*|WNK2_uc010mrc.1_Nonsense_Mutation_p.Q540*|WNK2_uc010mrd.1_Nonsense_Mutation_p.Q177*	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	540					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCTTGATCCAGTGGCGGCG	0.632000														24			12		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112925	168112925	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:168112925A>T	uc010jjg.3	-	30	3763	c.3343T>A	c.(3343-3345)Ttc>Atc	p.F1115I	SLIT3_uc003mab.3_Missense_Mutation_p.F1108I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1108					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTCACAGAAGGGTCCACTG	0.592000														33			25		0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	69008046	69008046	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:69008046C>T	uc002ewi.4	+	14	2829	c.2817C>T	c.(2815-2817)gtC>gtT	p.V939V		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	939						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TCGGGGAAGTCCTTATGCGAA	0.468000														55			21		0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5040898	5040898	+	Silent	SNP	G	A	A	rs139670873		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:5040898G>A	uc001ihs.3	-	6	902	c.489C>T	c.(487-489)atC>atT	p.I163I	AKR1C3_uc001ihr.3_Intron|AKR1C2_uc009xhy.3_Silent_p.I137I|AKR1C2_uc001iht.3_Silent_p.I163I	NM_001354	NP_001345	P52895	AK1C2_HUMAN	Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) (AKR1C2), transcript variant 1, mRNA.	163					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.I163M(2)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	TGGACACCCCGATGGACTTGG	0.512000														122			64		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566782	4566782	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:4566782C>T	uc010qyf.2	+	0	362	c.362C>T	c.(361-363)gCt>gTt	p.A121V		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGCCATGGCTTTTGATCGC	0.537000														101			104		0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72610074	72610074	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:72610074G>A	uc002jlb.2	-	2	624	c.487C>T	c.(487-489)Caa>Taa	p.Q163*		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	163						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTGAATTTTGGGTCAACACC	0.622000														14			10		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274180	103274180	+	Silent	SNP	C	T	T	rs143241362	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:103274180C>T	uc002tca.3	+	1	589	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	149						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCCCACCCATCGTGCTGGATG	0.468000														303			162		0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50335387	50335387	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:50335387C>T	uc002ppw.2	+	11	1410	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	MED25_uc010ybe.2_Silent_p.I236I|MED25_uc002ppx.1_Silent_p.I230I	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	449	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGAAGCTGATCATGCAGCTCA	0.687000														58			32		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247586	247586	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:247586C>T	uc001qhw.2	+	3	1057	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	IQSEC3_uc001qhu.1_Silent_p.L50L|LOC574538_uc001qhv.1_Non-coding_Transcript	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	353					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCGGATCTCCCTGCGCAAGGT	0.657000														37			18		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848402	78848402	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:78848402C>T	uc004akc.2	+	21	3294	c.2756C>T	c.(2755-2757)tCg>tTg	p.S919L		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	769					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGCTGTGTTTCGAACTGCCCC	0.488000														73			26		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199316	118199316	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:118199316G>A	uc001two.2	-	3	454	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	162					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTCTTGTTTGGAAAGGTTGC	0.547000														55			162		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963642	112963642	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:112963642C>T	uc011lwk.2	-	1	860	c.306G>A	c.(304-306)ctG>ctA	p.L102L	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	102										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CAGCCTCCTCCAGCCTCCCCT	0.577000														68			33		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120906864	120906864	+	Splice_Site	SNP	T	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:120906864T>A	uc003vjq.4	+	20	3080	c.2633_splice	c.e20+2	p.R878_splice		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	878						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TTTGAAGAGGTAAATGTCTGC	0.343000														79			64		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55578989	55578989	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:55578989G>A	uc001nhw.1	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)|p.L15L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATTCTCCTTGGACTATCAGAT	0.433000														218			131		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18197736	18197736	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:18197736G>A	uc002nhx.1	-	1	69	c.18C>T	c.(16-18)ttC>ttT	p.F6F	IL12RB1_uc002nhw.1_5'UTR|IL12RB1_uc010xqb.1_5'UTR|IL12RB1_uc002nhy.3_5'UTR	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	0					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGAGCAAGGAGAAAAGACTGA	0.517000														4			7		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138314862	138314862	+	Silent	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:138314862T>C	uc011kqh.2	-	8	795	c.795A>G	c.(793-795)aaA>aaG	p.K265K	SVOPL_uc003vue.3_Silent_p.K113K	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	265						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATCTTCCTCTTTTTTCCTGGG	0.373000														70			70		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264304	61264304	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:61264304G>A	uc010xep.2	+	7	1078	c.910G>A	c.(910-912)Gat>Aat	p.D304N	SERPINB13_uc002ljc.3_Missense_Mutation_p.D295N|SERPINB13_uc002ljd.3_Missense_Mutation_p.D159N|SERPINB13_uc010xeq.2_Missense_Mutation_p.D116N|SERPINB13_uc010xer.2_Missense_Mutation_p.D116N	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	295					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGACGGTTACGATCTAGAGGC	0.547000														151			80		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120657	47120657	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:47120657G>A	uc001wwg.3	-	0	372	c.283C>T	c.(283-285)Cat>Tat	p.H95Y		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	95					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CGGATGACATGGAAGGGATGG	0.547000														84			31		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41682063	41682063	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:41682063G>A	uc003gvz.4	+	23	3977	c.3560G>A	c.(3559-3561)tGg>tAg	p.W1187*	LIMCH1_uc003gwe.4_Nonsense_Mutation_p.W726*|LIMCH1_uc003gvu.4_Nonsense_Mutation_p.W803*|LIMCH1_uc003gvv.4_Nonsense_Mutation_p.W803*|LIMCH1_uc003gvw.4_Nonsense_Mutation_p.W802*|LIMCH1_uc003gvx.4_Nonsense_Mutation_p.W815*|LIMCH1_uc003gvy.4_Nonsense_Mutation_p.W631*|LIMCH1_uc003gwa.4_Nonsense_Mutation_p.W643*|LIMCH1_uc011byu.2_Nonsense_Mutation_p.W636*|LIMCH1_uc003gwc.4_Nonsense_Mutation_p.W648*|LIMCH1_uc003gwd.4_Nonsense_Mutation_p.W636*|LIMCH1_uc011byv.2_Nonsense_Mutation_p.W553*|LIMCH1_uc011byw.2_Nonsense_Mutation_p.W102*	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	803					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						AAAGAAGAGTGGGAAAAGGCC	0.443000														23			7		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496253	110496253	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:110496253C>T	uc004epc.2	-	3	680	c.489G>A	c.(487-489)ctG>ctA	p.L163L	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	163	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						AAGCTTTTTCCAGCAGAGCAT	0.438000														18			40		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660483	46660483	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:46660483G>A	uc003oyj.3	+	0	4872	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	TDRD6_uc010jze.3_Missense_Mutation_p.D1540N	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1540					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCAGTTTGCTGATACGGAGAA	0.393000														186			11		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9316310	9316310	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:9316310G>A	uc001qvl.3	-	20	2719	c.2690C>T	c.(2689-2691)cCt>cTt	p.P897L	PZP_uc009zgl.3_Intron|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTAATCTCAGGGACCTCAAC	0.428000														87			46		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96493188	96493188	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:96493188C>T	uc001kjv.4	+	7	1610	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	CYP2C19_uc001kjw.4_Silent_p.F369F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.S32F	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	428					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCATGCCTTTCTCAGCAGGTA	0.438000														122			52		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406895	140406895	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:140406895C>T	uc003eto.2	+	2	1577	c.1371C>T	c.(1369-1371)atC>atT	p.I457I		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	457	COS.					intracellular	zinc ion binding	p.G456C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGGACGGCATCCAGACCACCT	0.567000														58			26		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139323097	139323097	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:139323097G>A	uc003yuy.3	-	2	315	c.144C>T	c.(142-144)atC>atT	p.I48I	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	48										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGCCCAGCGATGGAGGCAC	0.552000										HNSCC(54;0.14)				66			27		0	0	1	0	0
PLLP	51090	broad.mit.edu	37	16	57292408	57292408	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:57292408C>T	uc002elg.2	-	2	530	c.398G>A	c.(397-399)gGc>gAc	p.G133D		NM_015993	NP_057077	Q9Y342	PLLP_HUMAN	Homo sapiens plasmolipin (PLLP), mRNA.	133	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						AGGCCGGGTGCCCCTCAGGGA	0.607000														88			4		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033512	82033512	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:82033512C>T	uc002fgu.3	-	2	514	c.386G>A	c.(385-387)gGa>gAa	p.G129E		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	129					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AACTTGACCTCCAAAGATGAC	0.488000														88			66		0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44099324	44099324	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:44099324A>G	uc002oww.2	-	0	285	c.167T>C	c.(166-168)cTt>cCt	p.L56P	IRGQ_uc010eiv.2_Missense_Mutation_p.L56P|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	56							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCCCAGAAAAAGGCCTGGGCC	0.716000														51			3		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18524227	18524227	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:18524227T>A	uc001rdt.3	+	11	1855	c.1739T>A	c.(1738-1740)cTt>cAt	p.L580H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.L621H|PIK3C2G_uc010sic.2_Missense_Mutation_p.L399H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	580					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGGACTTGTCTTCCACTGTTT	0.363000														32			20		0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19955587	19955587	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:19955587C>T	uc002wro.2	+	7	1214	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Silent_p.S100S	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	306					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGACTCGGTCCCCCCCACCCA	0.612000														72			55		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:71346978T>C	uc011cat.2	+	3	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_uc011cau.2_Missense_Mutation_p.S173P|MUC7_uc003hfj.3_Missense_Mutation_p.S173P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	173	Thr-rich.					extracellular region	protein binding	p.S173P(6)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000														373			5		0	0	1	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58335513	58335513	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:58335513G>A	uc001sqp.3	+	0	69	c.29G>A	c.(28-30)cGg>cAg	p.R10Q		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA.	10					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GAgcgccggcggggccccgcg	0.697000														23			10		0	0	1	0	0
MIR1297	100302187	broad.mit.edu	37	13	54886170	54886170	+	RNA	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:54886170C>T	uc021rkb.1	-	0		c.14G>A								Homo sapiens microRNA 1297 (MIR1297), microRNA.																		ATAGATCAACCCTAGAGATAA	0.323000														48			19		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742900	51742901	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:51742900_51742901CC>TT	uc002pwa.2	+	6	1092_1093	c.1052_1053CC>TT	c.(1051-1053)tcc>tTT	p.S351F	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.S224F|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	351					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATGAATCCTTCCAAGGACACCT	0.545000														45			15		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128321778	128321778	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:128321778C>T	uc002top.3	+	2	122	c.69C>T	c.(67-69)gcC>gcT	p.A23A		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	23						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)		CCGGCGTGGCCATCGGGGGCA	0.612000														8			4		0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129880893	129880893	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:129880893G>A	uc003igp.2	-	11	1415	c.909C>T	c.(907-909)acC>acT	p.T303T	SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	303						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTGTATTTTCGGTTCTTAATT	0.353000														110			53		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71697450	71697451	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:71697450_71697451CC>AT	uc001jql.3	+	32	2360_2361	c.1824_1825CC>AT	c.(1822-1827)gaccgt>gaATgt	p.608_609DR>EC	COL13A1_uc021prz.1_Missense_Mutation_p.571_572DR>EC|COL13A1_uc021psa.1_Missense_Mutation_p.536_537DR>EC|COL13A1_uc021psb.1_Missense_Mutation_p.542_543DR>EC|COL13A1_uc001jqk.2_Missense_Mutation_p.586_587DR>EC|COL13A1_uc021psc.1_Missense_Mutation_p.589_590DR>EC|COL13A1_uc021psd.1_Missense_Mutation_p.571_572DR>EC|COL13A1_uc010qjf.2_Missense_Mutation_p.536_537DR>EC|COL13A1_uc021pse.1_Missense_Mutation_p.542_543DR>EC|COL13A1_uc021psf.1_Missense_Mutation_p.608_609DR>EC|COL13A1_uc021psg.1_Missense_Mutation_p.586_587DR>EC|COL13A1_uc021psh.1_Missense_Mutation_p.589_590DR>EC	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	608	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAAAGGAGACCGTGGTCCCCT	0.589000														54			27		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163045629	163045629	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:163045629G>A	uc002ucd.3	-	18	1811	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S	FAP_uc010fpc.3_Missense_Mutation_p.P84S|FAP_uc010zct.2_Missense_Mutation_p.P510S	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	535					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATTAGCAAGGGATACTTCTTT	0.299000														77			36		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96054676	96054676	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:96054676C>T	uc004ati.1	+	21	5134	c.5134C>T	c.(5134-5136)Cag>Tag	p.Q1712*	WNK2_uc011lud.1_Nonsense_Mutation_p.Q1675*|WNK2_uc004atj.3_Nonsense_Mutation_p.Q1675*|WNK2_uc004atk.3_Nonsense_Mutation_p.Q1312*|WNK2_uc004atl.1_Nonsense_Mutation_p.Q269*	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1712					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGCGTCCCCCAGGTAAGGGC	0.562000														175			96		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51512900	51512900	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:51512900G>A	uc003pah.1	-	62	11603	c.11327C>T	c.(11326-11328)tCc>tTc	p.S3776F		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3776					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S3776S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGTCCCAGGGACTCTACTCT	0.413000														105			41		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787510	73787510	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:73787510G>A	uc011dyh.2	+	4	1165	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_uc003pgj.4_Missense_Mutation_p.G273E|KCNQ5_uc011dyi.2_Missense_Mutation_p.G273E|KCNQ5_uc010kat.3_Missense_Mutation_p.G273E|KCNQ5_uc003pgk.3_Missense_Mutation_p.G273E|KCNQ5_uc011dyj.2_Missense_Mutation_p.G273E|KCNQ5_uc011dyk.2_Missense_Mutation_p.G32E	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	273					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGTACATAGGATTTTTGGTT	0.348000														28			11		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176838117	176838117	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:176838117C>T	uc001glc.3	-	21	3722	c.3510G>A	c.(3508-3510)ggG>ggA	p.G1170G	ASTN1_uc001glb.1_Silent_p.G1170G|ASTN1_uc001gld.1_Silent_p.G1170G	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1178					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTGCTCCTTCCCACTAGTGT	0.438000														85			45		0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68074065	68074065	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:68074065C>T	uc003xxi.3	+	21	2679	c.2648C>T	c.(2647-2649)cCt>cTt	p.P883L	CSPP1_uc003xxj.3_Missense_Mutation_p.P848L|CSPP1_uc003xxk.3_Missense_Mutation_p.P503L|CSPP1_uc010lyw.3_5'Flank	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	883						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGCCTTCTCCTATAGTTCCT	0.368000														165			79		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	33990609	33990609	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:33990609G>A	uc003oir.4	-	9	3091	c.2728C>T	c.(2728-2730)Cat>Tat	p.H910Y	GRM4_uc011dsn.2_Missense_Mutation_p.H863Y|GRM4_uc010jvh.3_Missense_Mutation_p.H910Y|GRM4_uc010jvi.3_Missense_Mutation_p.H602Y|GRM4_uc003oio.3_Missense_Mutation_p.H602Y|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.H770Y|GRM4_uc003oiq.3_Missense_Mutation_p.H777Y|GRM4_uc011dsm.2_Missense_Mutation_p.H741Y	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	910					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.N909I(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TAGATTGCATGGTTGGTGTAA	0.602000														113			38		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23624996	23624996	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:23624996C>T	uc003swk.2	-	0	1151	c.501G>A	c.(499-501)agG>agA	p.R167R						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		GACCCAAGATCCTTTCCATCG	0.488000														111			92		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975413	32975413	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:32975413C>T	uc001rlj.4	-	8	2074	c.1959G>A	c.(1957-1959)agG>agA	p.R653R	PKP2_uc001rlk.4_Silent_p.R609R|PKP2_uc010skj.2_Silent_p.R609R	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	653					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)					CTTTTACTTTCCTGCTTCGAC	0.378000														75			41		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166600	180166600	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:180166600G>A	uc003mmf.1	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCACGAAACCCGCAC	0.552000														45			25		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91290632	91290632	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:91290632G>T	uc002bpr.3	+	1	107	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F	BLM_uc010uqh.2_Missense_Mutation_p.V4F|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.V4F	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	4					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TATGGCTGCTGTTCCTCAAAA	0.353000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					13			4		1	1	1	1	0
C3	718	broad.mit.edu	37	19	6710663	6710663	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:6710663G>A	uc002mfm.3	-	12	1735	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	558					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCCACGCAGGAGTCCTTGAC	0.637000														28			20		0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35930045	35930045	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:35930045G>A	uc001iyz.1	-	0	318	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	105	FZ.				T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CGGCAGGGCGGCAGCGGCTTC	0.677000														99			4		0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79093958	79093958	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:79093958G>A	uc010oro.2	+	1	537	c.358G>A	c.(358-360)Gat>Aat	p.D120N	IFI44L_uc010orp.2_Intron|IFI44L_uc010orq.2_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	120						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATCGAAAACGGATATTTTCAT	0.303000														32			12		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539467	55539467	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:55539467G>A	uc003xsd.1	+	3	3173	c.3025G>A	c.(3025-3027)Gtt>Att	p.V1009I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1009					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGAGACACAGGTTGGATCTCT	0.383000														227			146		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42681288	42681288	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:42681288C>T	uc001zpn.1	+	4	1101	c.795C>T	c.(793-795)tcC>tcT	p.S265S	CAPN3_uc001zpk.1_Silent_p.S38S|CAPN3_uc001zpl.1_Silent_p.S178S|CAPN3_uc010udf.1_Silent_p.S178S|CAPN3_uc010udg.1_Silent_p.S178S|CAPN3_uc001zpo.1_Silent_p.S265S|CAPN3_uc001zpp.1_Silent_p.S265S	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	265	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGGGCTGCTCCATTGATGTAA	0.527000														157			84		0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30693131	30693131	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:30693131G>A	uc003tbn.3	-	11	1426	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	CRHR2_uc010kvw.2_3'UTR|CRHR2_uc010kvx.2_Missense_Mutation_p.P393L|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.P230L|CRHR2_uc003tbo.3_Missense_Mutation_p.P380L|CRHR2_uc003tbp.3_Missense_Mutation_p.P421L	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	394					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGTGATGTAGGGATGGACAT	0.652000														316			216		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:124062285T>G	uc004blf.1	+	1	205	c.144_splice	c.e1+2	p.R48_splice	GSN_uc004bld.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	48					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697000														62			14		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125231381	125231381	+	RNA	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:125231381T>C	uc003pzq.3	-	6		c.3353A>G								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		GGAACTAAAATACATGGTTGG	0.294000			T	ETV6	B-ALL									13			14		0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52469210	52469210	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:52469210G>A	uc002pyd.3	-	4	724	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	166					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGGTTAGCATGAAGAAAGGAG	0.373000														159			67		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230915968	230915968	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:230915968G>A	uc001htz.1	+	9	1271	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E	CAPN9_uc009xfg.1_Silent_p.E323E|CAPN9_uc001hua.1_Silent_p.E360E	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	386	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTCTGACTGAGAAAGATGAGG	0.423000														72			34		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589988	156589988	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:156589988C>T	uc003lwn.3	-	1	1388	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	430						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCTTCTTTCCTTGTTTTCA	0.498000														168			77		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135975765	135975765	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:135975765G>A	uc004cco.3	-	16	2479	c.2459C>T	c.(2458-2460)aCc>aTc	p.T820I	RALGDS_uc004ccn.3_Missense_Mutation_p.T8I|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.T808I|RALGDS_uc004ccr.3_Missense_Mutation_p.T819I|RALGDS_uc011mcv.2_Missense_Mutation_p.T791I|RALGDS_uc004ccs.3_Missense_Mutation_p.T765I|RALGDS_uc011mcw.2_Missense_Mutation_p.T891I|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	820	Ras-associating.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ATCTTGGCTGGTCACCTGCAT	0.612000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									197			118		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103300477	103300477	+	Silent	SNP	A	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:103300477A>G	uc003ykr.2	-	35	5186	c.4731T>C	c.(4729-4731)ggT>ggC	p.G1577G	UBR5_uc003yks.2_Silent_p.G1577G	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1577					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTCCAGCCACACCCTCCACCA	0.423000														198			4		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101656106	101656106	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:101656106G>A	uc001kqj.2	-	9	3061	c.2969C>T	c.(2968-2970)tCc>tTc	p.S990F	DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Missense_Mutation_p.S278F|DNMBP_uc001kqh.2_Missense_Mutation_p.S622F	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	990					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTTCAGTTTGGAAATTTTCTC	0.458000														104			46		0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243345	180243345	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:180243345C>T	uc001goe.2	+	5	1036	c.804C>T	c.(802-804)ggC>ggT	p.G268G	LOC100527964_uc001gof.2_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CAGAACTTGGCCACACCAATA	0.493000														229			5		0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74085522	74085522	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:74085522G>A	uc001ovb.1	-	1	513	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	73					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATGGCAGAACGAAGTCCTGCA	0.413000														63			36		0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126089462	126089462	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:126089462G>A	uc001lhp.3	-	8	1239	c.1106C>T	c.(1105-1107)aCt>aTt	p.T369I	OAT_uc001lhr.3_Missense_Mutation_p.T231I|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	369					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TCTTACGGCAGTTACAACATC	0.333000														30			17		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395120	158395120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:158395120G>A	uc002tzk.4	-	7	1564	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	ACVR1C_uc002tzl.4_Nonsense_Mutation_p.R361*|ACVR1C_uc010fof.3_Nonsense_Mutation_p.R284*|ACVR1C_uc010foe.3_Nonsense_Mutation_p.R391*	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	441	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATACTTGGTCGAAACTTCTGG	0.388000														129			59		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252971	37252971	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:37252971C>T	uc022abv.1	-	11	1633	c.923G>A	c.(922-924)aGg>aAg	p.R308K	ELMO1_uc011kbc.2_Missense_Mutation_p.R212K|ELMO1_uc003tfk.2_Missense_Mutation_p.R308K|ELMO1_uc010kxg.2_Missense_Mutation_p.R308K	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	308					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTCATCATCCTGTCTTCCAG	0.498000														148			43		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673609	3673609	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:3673609C>T	uc002wja.3	-	13	3678	c.3678G>A	c.(3676-3678)ctG>ctA	p.L1226L	SIGLEC1_uc002wiz.4_Silent_p.L1226L|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1226	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTCGCAGCTCCAGGCGCAGGG	0.711000														88			48		0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732247	100732247	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:100732247C>T	uc003uxq.3	+	2	1885	c.1654C>T	c.(1654-1656)Cct>Tct	p.P552S	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.P552S	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	552					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGCTGCTCCCCTTGCAGCGT	0.672000														245			86		0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	902240	902240	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:902240G>A	uc010qwu.1	-	3	555	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	CHID1_uc010qwv.2_Missense_Mutation_p.R179C|CHID1_uc001lsn.3_Missense_Mutation_p.R143C|CHID1_uc001lso.3_Missense_Mutation_p.R118C|CHID1_uc001lsm.3_Missense_Mutation_p.R118C|CHID1_uc001lsp.3_Missense_Mutation_p.R118C|CHID1_uc010qww.2_Missense_Mutation_p.R118C	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.	118					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AACATCTCACGGCCACGTCTC	0.557000														120			33		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4808372	4808372	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:4808372G>A	uc003bqc.3	+	43	6008	c.5658G>A	c.(5656-5658)agG>agA	p.R1886R	ITPR1_uc021wsi.1_Silent_p.R1853R|ITPR1_uc021wsj.1_Silent_p.R1838R|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1901					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGGTAGACAGGGATGCCCCAT	0.433000														60			37		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102145	29102145	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:29102145C>T	uc002kwu.4	+	5	811	c.623C>T	c.(622-624)cCt>cTt	p.P208L		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	208	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P208S(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCTGCTTATCCTCCAGTGTTC	0.378000														76			31		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673164	20673164	+	Missense_Mutation	SNP	C	A	A	rs145893961		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:20673164C>A	uc002dhm.1	-	5	1012	c.944G>T	c.(943-945)tGg>tTg	p.W315L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.W315L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	315					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGATACCCCCCAAAAGTGGTT	0.363000														78			38		6.4771e-29	6.58392e-29	1	1	0
HCAR3	8843	broad.mit.edu	37	12	123200983	123200983	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:123200983C>T	uc001ucy.4	-	0	457	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	101						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GAGCACCAGCCGGCAAGGGAT	0.557000														34			79		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39961117	39961117	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:39961117C>T	uc002olo.4	+	17	1810	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	SUPT5H_uc002olp.4_Missense_Mutation_p.P544L|SUPT5H_uc002olq.4_Missense_Mutation_p.P540L|SUPT5H_uc002oln.4_Missense_Mutation_p.P544L|SUPT5H_uc002olr.4_Missense_Mutation_p.P544L|SUPT5H_uc002ols.1_Missense_Mutation_p.P167L|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	544					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTGGATCCCCAGACTGTG	0.607000														293			146		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537395	5537395	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:5537395C>T	uc001maz.4	-	0	562	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	93	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ATGGTGTGGCCATCCATGATG	0.547000														103			48		0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32582855	32582855	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:32582855G>A	uc003tcv.1	+	1	342	c.196G>A	c.(196-198)Gca>Aca	p.A66T	AVL9_uc011kai.2_Missense_Mutation_p.A66T|AVL9_uc010kwj.1_5'Flank	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	66						integral to membrane		p.G65G(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACCAGATGGCGCACACAACTA	0.423000														388			7		0	0	1	0	0
NCF1B	654816	broad.mit.edu	37	7	72639986	72639986	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:72639986G>A	uc011ker.1	+	3	300	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	FKBP6_uc003twz.2_Intron|NCF1B_uc022afs.1_Intron					Homo sapiens neutrophil cytosolic factor 1B pseudogene (NCF1B), non-coding RNA.																		CGAGTACTGCGGCACGCTCAT	0.622000														135			5		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39675003	39675003	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39675003C>T	uc002hwy.3	-	0	268	c.77G>A	c.(76-78)gGg>gAg	p.G26E	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	26	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GCCACCTCCCCCAGCCAGGAG	0.597000														151			111		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223885	55223885	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:55223885G>A	uc003pcm.1	+	5	987	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	301						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAAAGTGAGGAATCTTTGTG	0.378000														86			49		0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30302590	30302590	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:30302590C>T	uc002hgs.2	+	6	903	c.681C>T	c.(679-681)ttC>ttT	p.F227F	SUZ12_uc002hgt.2_Silent_p.F204F	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	227					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CCGGAAATTTCCCGTCCCTTG	0.433000			T	JAZF1	endometrial stromal tumours									79			51		0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61444153	61444153	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:61444153C>T	uc002ydj.3	+	6	1221	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	OGFR_uc002ydk.3_Missense_Mutation_p.P379S|OGFR_uc002ydl.3_Missense_Mutation_p.P344S	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	Homo sapiens opioid growth factor receptor (OGFR), mRNA.	396					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGAGCAGCCGCCCACAGAGCC	0.657000														53			26		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27279826	27279826	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:27279826G>A	uc003xfn.2	+	9	1285	c.477G>A	c.(475-477)cgG>cgA	p.R159R	PTK2B_uc022ate.1_Silent_p.R159R|PTK2B_uc003xfp.2_Silent_p.R159R|PTK2B_uc003xfq.2_Silent_p.R159R	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	159	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		ACCAGCTCCGGAACGACTACA	0.622000														66			31		0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75651186	75651186	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:75651186G>A	uc003uel.3	-	3	633	c.290C>T	c.(289-291)tCt>tTt	p.S97F	STYXL1_uc011kgg.2_5'UTR|STYXL1_uc003ueh.3_Silent_p.L8L|STYXL1_uc011kgf.2_Silent_p.L8L|STYXL1_uc003uek.4_Intron|STYXL1_uc003uem.3_Missense_Mutation_p.S97F|STYXL1_uc010ldg.2_Non-coding_Transcript|STYXL1_uc010ldh.2_Missense_Mutation_p.S97F|STYXL1_uc003uen.1_Missense_Mutation_p.S97F	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	97	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ATCACCATCAGAGTCTGAATC	0.428000														564			187		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727654	13727654	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:13727654G>A	uc003jfd.2	-	69	12037	c.11995C>T	c.(11995-11997)Ctt>Ttt	p.L3999F	DNAH5_uc003jfc.2_Missense_Mutation_p.L167F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3999					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATCTAATAAGGAGAAGACGT	0.363000									Kartagener syndrome					92			39		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390208	197390208	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:197390208G>A	uc001gtz.3	+	5	1459	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E	CRB1_uc010poz.2_Missense_Mutation_p.G348E|CRB1_uc009wza.3_Missense_Mutation_p.G305E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G417E|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.G66E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	417	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.P416T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AACTTGCCTGGGAATTATACT	0.413000														132			58		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6959439	6959439	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:6959439G>A	uc002knm.3	-	53	7773	c.7679C>T	c.(7678-7680)cCt>cTt	p.P2560L	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.P13L|LAMA1_uc010wzj.2_Missense_Mutation_p.P2036L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2560	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCATCCCCAGGATTGACATG	0.517000														79			42		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500839	66500839	+	RNA	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:66500839T>C	uc004aed.1	+	2		c.932T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		AACCACCTGGTGCCCAGGGCT	0.637000														79			5		0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39316759T>C	uc002hwc.3	-	0	225	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662000														176			6		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7646249	7646249	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:7646249C>T	uc002giu.1	+	10	1707	c.1693C>T	c.(1693-1695)Ctt>Ttt	p.L565F	DNAH2_uc002git.3_Missense_Mutation_p.L647F|DNAH2_uc010vuk.2_Missense_Mutation_p.L565F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	565	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCTCAGTGCCTTGCTGGTGC	0.572000														34			25		0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:4619828A>C	uc010vsg.2	+	4	510	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_uc002fyj.3_Silent_p.P94P|ARRB2_uc002fyk.3_Silent_p.P79P|ARRB2_uc002fyl.3_Silent_p.P94P|ARRB2_uc002fym.3_Silent_p.P79P|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	94					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667000														39			8		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823673	38823673	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:38823673G>A	uc003avs.1	-	1	562	c.465C>T	c.(463-465)gtC>gtT	p.V155V	KCNJ4_uc003avt.1_Silent_p.V155V|KCNJ4_uc021wpp.1_Silent_p.V155V	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	155					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGATGGACTGGACCACCACAG	0.622000														80			40		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012654	189012654	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:189012654G>A	uc011cle.1	-	7	1484	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	TRIML2_uc003izj.1_Missense_Mutation_p.S174F|TRIML2_uc003izk.1_Missense_Mutation_p.S154F|TRIML2_uc003izl.2_Missense_Mutation_p.S346F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	346							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)		GGCGCAATGGGAGAAATTGTA	0.483000														154			77		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233516	168233516	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:168233516G>A	uc010jjg.3	-	8	1290	c.870C>T	c.(868-870)atC>atT	p.I290I	SLIT3_uc003mab.3_Silent_p.I290I|SLIT3_uc010jji.2_Silent_p.I290I|SLIT3_uc003mac.1_Silent_p.I87I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	290	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACAGTCCACGATGTTATTGC	0.582000														178			69		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708828	176708828	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:176708828C>T	uc001gkz.3	+	12	5029	c.3865C>T	c.(3865-3867)Ccc>Tcc	p.P1289S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1289					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P1289P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGCCTAGTTCCCGGAGAGCA	0.448000														81			41		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833010	130833010	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:130833010C>T	uc010fmh.2	-	16	2435	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	679						cell cortex	ATP binding	p.D679D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTTCAATATCCTCCAAATAT	0.388000														56			29		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242157	3242157	+	Silent	SNP	C	T	T	rs144210017		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:3242157C>T	uc004crg.4	-	4	1726	c.1569G>A	c.(1567-1569)gcG>gcA	p.A523A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	523	Ig-like C2-type 1.					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)				CATCCATGGGCGCTTTCAGGA	0.542000														23			35		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683763	6683763	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:6683763G>A	uc010vtg.2	+	1	696	c.576G>A	c.(574-576)gaG>gaA	p.E192E		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	192										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGAGGAATGAGAATGTGATCT	0.498000														71			46		0	0	1	0	0
LOC654342	654342	broad.mit.edu	37	2	91843404	91843404	+	RNA	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:91843404G>A	uc002sts.4	-	1		c.166C>T			LOC654342_uc010yub.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC654342), non-coding RNA.																		CTTGCAGGATGGAGTCTTGGC	0.612000														51			24		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319170	21319170	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:21319170C>T	uc021tss.1	+	2	886	c.516C>T	c.(514-516)atC>atT	p.I172I	KCNJ18_uc002gyv.1_Silent_p.I172I|KCNJ18_uc021tst.1_Silent_p.I172I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	172						integral to membrane	inward rectifier potassium channel activity										GCTGCATCATCGACTCCTTCA	0.632000														156			14		0	0	1	0	0
PLEK2	26499	broad.mit.edu	37	14	67864416	67864416	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:67864416G>A	uc001xjh.1	-	1	222	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	Homo sapiens pleckstrin 2 (PLEK2), mRNA.	57	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GCAGGTGATGGTGCAGCCATC	0.607000														41			19		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92560207	92560207	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:92560207G>A	uc010tif.2	+	5	1663	c.1297G>A	c.(1297-1299)Gtt>Att	p.V433I		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	433						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			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)				TCAGCGTGTGGTTGGAAATGG	0.388000														61			28		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6539007	6539007	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:6539007C>T	uc001iji.1	-	5	833	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	PRKCQ_uc001ijj.2_Missense_Mutation_p.R217Q|PRKCQ_uc009xim.2_Missense_Mutation_p.R217Q|PRKCQ_uc009xin.2_Missense_Mutation_p.R181Q|PRKCQ_uc010qax.2_Missense_Mutation_p.R92Q	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	217					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CATGGTTTCTCGGCTATTGAT	0.373000														83			57		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533835	55533835	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:55533835C>T	uc003xsd.1	+	1	457	c.309C>T	c.(307-309)tcC>tcT	p.S103S	RP1_uc011ldy.1_Silent_p.S103S	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	103	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACGGCGAGTCCTACCTATGTT	0.662000														135			77		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407112	38407112	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:38407112C>T	uc003jlc.2	+	7	1357	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	EGFLAM_uc003jlb.2_Silent_p.A337A|EGFLAM_uc003jle.2_Silent_p.A103A|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	337						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGGTGTGGCCATAATGTCAA	0.547000														116			53		0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69695553	69695553	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:69695553C>T	uc001xky.3	+	3	600	c.354C>T	c.(352-354)gcC>gcT	p.A118A	EXD2_uc001xkt.3_5'UTR|EXD2_uc001xkv.3_Silent_p.A118A|EXD2_uc001xkw.3_5'UTR|EXD2_uc001xku.3_5'UTR|EXD2_uc001xkx.3_5'UTR|EXD2_uc010aqt.3_Silent_p.A118A|EXD2_uc010tte.2_Silent_p.A118A	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	0	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGGCAAAGCCAGCCCTCTGT	0.483000														20			19		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152162	45152162	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:45152162C>T	uc003com.3	-	3	962	c.827G>A	c.(826-828)aGg>aAg	p.R276K	CDCP1_uc003con.3_Missense_Mutation_p.R276K	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	276						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTCCTCCTTCCTCTCACAGTT	0.587000														163			91		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559080	129559080	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:129559080G>A	uc009zyl.1	-	8	2968	c.2640C>T	c.(2638-2640)acC>acT	p.T880T	TMEM132D_uc001uia.2_Silent_p.T418T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	880						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGCTGGGGATGGTCTGCAAGT	0.567000														36			72		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62598785	62598785	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:62598785G>A	uc010ihh.3	+	4	881	c.708G>A	c.(706-708)agG>agA	p.R236R	LPHN3_uc003hcq.4_Silent_p.R236R|LPHN3_uc010ihg.1_Silent_p.R304R|LPHN3_uc003hcs.1_Silent_p.R65R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	236	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCGGACTAGGATAAAGAGTG	0.458000														49			21		0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514070	50514070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:50514070G>A	uc003tpd.3	-	3	1286	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	FIGNL1_uc003tpb.3_Nonsense_Mutation_p.Q195*|FIGNL1_uc003tpc.3_Nonsense_Mutation_p.Q306*|FIGNL1_uc003tpe.3_Nonsense_Mutation_p.Q306*|FIGNL1_uc010kyy.3_Nonsense_Mutation_p.Q306*|FIGNL1_uc022ada.1_Nonsense_Mutation_p.Q306*	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	306					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.Q306E(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTTTTTTGCTGATCTACCCAT	0.413000														65			59		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31710717	31710717	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:31710717G>A	uc003nwu.2	+	3	463	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	MSH5_uc003nwx.2_Missense_Mutation_p.R112Q|MSH5_uc003nwv.2_Missense_Mutation_p.R112Q|MSH5_uc003nww.2_Missense_Mutation_p.R112Q|MSH5_uc011dof.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	112					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						AATATGACTCGATTTCTGGGA	0.433000								Direct reversal of damage;Mismatch excision repair (MMR)						201			63		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816915	77816915	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:77816915C>T	uc003hki.3	-	0	2088	c.2088G>A	c.(2086-2088)cgG>cgA	p.R696R		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	696																	TGACATTTACCCGAGAAGCCA	0.537000														415			201		0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76797702	76797702	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:76797702C>T	uc001jwq.1	-	2	555	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	185	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCCCCGGTTCGGGAGGACGC	0.652000														77			38		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411155	43411155	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:43411155G>A	uc002ovj.1	-	4	1258	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.H227Y|PSG4_uc002ovg.1_Missense_Mutation_p.H387Y	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	388	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)				AGCCCGCTATGATTTGTAGTA	0.453000														444			218		0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340006	1340006	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:1340006G>A	uc002fsl.3	-	1	835	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S	CRK_uc002fsm.3_Intron	NM_016823	NP_058431	P46108	CRK_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA.	229					actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	SH2 domain binding|protein binding	p.P229L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TTAGGGAGCGGAGTGTTGACG	0.582000														130			49		0	0	1	0	0
FAM55C	91775	broad.mit.edu	37	3	101520198	101520198	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:101520198C>T	uc003dvn.3	+	4	850	c.213C>T	c.(211-213)tcC>tcT	p.S71S	FAM55C_uc010hpn.3_Silent_p.S71S	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	71						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						AGACCCTGTCCAGCCAGGAGC	0.557000														182			101		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798977	44798977	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:44798977C>T	uc003tlr.3	+	6	1034	c.911C>T	c.(910-912)tCc>tTc	p.S304F	ZMIZ2_uc003tlq.3_Missense_Mutation_p.S272F|ZMIZ2_uc003tls.3_Missense_Mutation_p.S304F|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	304	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTCCCCTTCCTACCCTGGG	0.667000														190			60		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174889	63174889	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:63174889C>T	uc001xfx.3	-	10	2355	c.2304G>A	c.(2302-2304)gtG>gtA	p.V768V	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	768					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CACTGGTTTTCACATAGGCCA	0.507000														66			29		0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37496818	37496818	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:37496818C>A	uc002rqd.3	-	11	2272	c.1717G>T	c.(1717-1719)Gtt>Ttt	p.V573F	PRKD3_uc002rqe.1_Missense_Mutation_p.V173F|PRKD3_uc002rqf.1_Missense_Mutation_p.V573F	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	573					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATCTGGTAAACAGTACTGATA	0.358000														68			42		2.77807e-22	2.81966e-22	1	1	0
CUBN	8029	broad.mit.edu	37	10	17157555	17157555	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:17157555G>A	uc001ioo.3	-	6	687	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	212					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCATATTTGGATGCACACTG	0.567000														87			46		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95182762	95182762	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:95182762G>A	uc003ygh.2	-	8	1054	c.929C>T	c.(928-930)gCa>gTa	p.A310V	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.A310V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	310	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTTGCAACTGCATAAAAAAC	0.383000														171			5		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928039	196928039	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:196928039G>A	uc001gtq.1	+	4	719	c.642G>A	c.(640-642)atG>atA	p.M214I	CFHR2_uc001gtr.1_Missense_Mutation_p.M90I	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	214	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAGAAATTATGGAAAAATATA	0.279000														32			21		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945475	4945475	+	Missense_Mutation	SNP	G	A	A	rs142377582		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:4945475G>A	uc010qyr.2	-	0	95	c.95C>T	c.(94-96)cCc>cTc	p.P32L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCAGAAGGGAATAGAGAT	0.463000														97			49		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	C	C	rs2227841	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:9784028T>C	uc003gmb.4	+	0	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	125					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGTGCTCCACTGCCTCCATCC	0.622000														64			7		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16374522	16374522	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:16374522C>T	uc001axx.4	+	4	617	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	161					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGGCAGCACCCTCTTCCTCGG	0.622000														75			39		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46385776	46385776	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:46385776C>T	uc002ldd.3	+	12	2008	c.1649C>T	c.(1648-1650)gCc>gTc	p.A550V	CTIF_uc002ldc.3_Missense_Mutation_p.A548V|CTIF_uc002lde.4_Missense_Mutation_p.A177V	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	548	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GAGCTCCTGGCCAGCGCACGG	0.622000														130			59		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363518	56363518	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:56363518G>A	uc002qmd.4	+	1	494	c.72G>A	c.(70-72)agG>agA	p.R24R		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	24	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGAGTTCAGGAAATTTAAAG	0.438000														162			75		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140250747	140250747	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:140250747G>A	uc004cmp.2	-	7	926	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	EXD3_uc010ncf.1_5'UTR|EXD3_uc004cmq.1_Non-coding_Transcript|EXD3_uc010ncg.1_Silent_p.L183L	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	244					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CGCTCCTGCAGACGCAAGACC	0.652000														16			8		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592947	38592947	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:38592947C>T	uc021wvo.1	-	26	4968	c.4916G>A	c.(4915-4917)gGg>gAg	p.G1639E	SCN5A_uc021wvk.1_Missense_Mutation_p.G1606E|SCN5A_uc021wvl.1_Missense_Mutation_p.G1585E|SCN5A_uc021wvm.1_Missense_Mutation_p.G1621E|SCN5A_uc021wvn.1_Missense_Mutation_p.G1638E|SCN5A_uc021wvp.1_Missense_Mutation_p.G1639E|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.G1451E|SCN5A_uc021wvi.1_Missense_Mutation_p.G1505E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1639					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCCCTTGGCCCCTCGGATCAG	0.587000														140			81		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117172	117172	+	RNA	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrGL000205.1:117172C>T	uc002kgk.4	+	0		c.550C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TTGCAAATTTCCCTAAAGAAT	0.463000														284			13		0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112423843	112423843	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:112423843G>A	uc003vgn.3	-	1	1430	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	TMEM168_uc010lju.3_Silent_p.S346S|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	346						integral to membrane|transport vesicle		p.S346S(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCATCCCTTTGGATGCCATGA	0.393000														230			236		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974067	49974067	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:49974067C>T	uc010rhz.2	+	0	125	c.93C>T	c.(91-93)gtC>gtT	p.V31V		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGTTTTCTGTCATCTACATCA	0.408000														225			234		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904093	21904093	+	RNA	SNP	A	G	G	rs76302591		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:21904093A>G	uc002gza.2	+	0		c.32A>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cacggggtccacaggaacgtc	0.682000														81			5		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085361	17085361	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:17085361C>T	uc010ock.2	-	9	1330	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.M5I					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CACCAGGGCCCATGGCTATCC	0.597000														125			11		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901590	2901590	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:2901590G>A	uc010ckd.3	+	13	1210	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	RAP1GAP2_uc010cke.3_Missense_Mutation_p.D359N	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	374	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GTTTGTCCCAGACATGATAGC	0.478000														134			83		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442194	138442194	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:138442194G>A	uc003ihe.4	-	3	3784	c.3397C>T	c.(3397-3399)Cgc>Tgc	p.R1133C	PCDH18_uc003ihf.4_Missense_Mutation_p.R1125C|PCDH18_uc011cgz.2_Missense_Mutation_p.R344C|PCDH18_uc003ihg.4_Missense_Mutation_p.R912C|PCDH18_uc011cha.2_Missense_Mutation_p.R313C	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1133	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAGCTCTGGCGGACATCTTGA	0.423000														62			24		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178879077	178879077	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:178879077C>T	uc002ulq.3	-	1	1341	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	PDE11A_uc002ulr.3_Silent_p.A91A|PDE11A_uc002ult.1_Silent_p.A91A	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	341	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A341V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCTTATTTATCGCTTGGGCCA	0.378000									Primary Pigmented Nodular Adrenocortical Disease, Familial					117			62		0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37369299	37369299	+	Silent	SNP	T	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:37369299T>C	uc002hrs.3	-	9	1365	c.1080A>G	c.(1078-1080)caA>caG	p.Q360Q	STAC2_uc010cvt.3_Silent_p.Q218Q	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	360					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CGGAGAAGGGTTGGCAGCAGC	0.607000														112			49		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829096	115829096	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:115829096G>A	uc021osd.1	-	0	321	c.321C>T	c.(319-321)gtC>gtT	p.V107V	NGF_uc001efu.1_Silent_p.V107V	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	107					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CAGCACCACCGACCTCGAAGT	0.587000														43			21		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511316	61511316	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:61511316C>T	uc001nsa.3	+	19	2600	c.2484C>T	c.(2482-2484)ccC>ccT	p.P828P		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	828					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGCCATCCCCGAGGAAAACC	0.672000														517			214		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127585	3127585	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:3127585G>A	uc021vzx.1	-	0	2132	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.S711F	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	711	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GAGATCCCTGGAGCCATAGCA	0.562000														178			86		0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160208881	160208881	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:160208881C>T	uc003qsr.3	-	2	408	c.173G>A	c.(172-174)gGt>gAt	p.G58D	TCP1_uc003qss.3_5'UTR|SNORA29_uc003qsv.1_5'Flank|MRPL18_uc010kkb.3_5'Flank|MRPL18_uc003qsw.4_5'Flank	NM_030752	NP_001008897	P17987	TCPA_HUMAN	Homo sapiens t-complex 1 (TCP1), transcript variant 1, mRNA.	58					'de novo' posttranslational protein folding|tubulin complex assembly	Golgi apparatus|cell junction	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GATGGTTGCACCATCGTTAGT	0.398000														109			54		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:31237922G>C	uc001rjt.1	+	4	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding	p.R167T(18)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)				19			3		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304232	176304232	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:176304232G>A	uc003mey.3	+	8	1610	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	473	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATACCCCGAGGGAAGATCTAT	0.637000														92			56		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16975087	16975087	+	Splice_Site	SNP	A	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:16975087A>C	uc001ioo.3	-	40	6176	c.6124_splice	c.e40+1	p.G2042_splice		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2042	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTCTCACCATCTCGTATCA	0.448000														83			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599565	179599565	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:179599565C>T	uc021vsy.1	-	47	11579	c.11354G>A	c.(11353-11355)cGa>cAa	p.R3785Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R446Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4712							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3785Q(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)			AAAATACATTCGGACTGTGTT	0.418000														71			35		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52360211	52360211	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:52360211C>T	uc011bef.2	+	3	723	c.462C>T	c.(460-462)atC>atT	p.I154I	DNAH1_uc003ddt.1_Silent_p.I154I	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	154	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCAGTGCATCGGGTCCACCA	0.632000														27			14		0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105865960	105865960	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:105865960C>T	uc004emi.4	+	1	874	c.723C>T	c.(721-723)atC>atT	p.I241I	CXorf57_uc004emj.4_Silent_p.I241I|CXorf57_uc004emh.2_Silent_p.I241I	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	241								p.R240K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTGTGAGGATCTTACATAAAT	0.299000														6			16		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113661236	113661236	+	RNA	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:113661236G>A	uc001pof.1	+	0		c.1284G>A								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		GCTGTGGATGGGTTAGGCAGT	0.522000														24			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083313	9083313	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:9083313C>T	uc002mkp.3	-	0	8706	c.8502G>A	c.(8500-8502)acG>acA	p.T2834T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2834	Ser-rich.|Thr-rich.		T -> M (in dbSNP:rs10407623).		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						TCAGTCTGTTCGTGGTGATTT	0.507000														31			15		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44943329	44943329	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:44943329G>A	uc003coc.4	+	7	950	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	293					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GACAGGCTTCGATTCAGCTCA	0.562000														68			43		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153223312	153223312	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:153223312G>A	uc004fjp.3	-	11	2582	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	685	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGACCACCGACATCACTTT	0.532000														32			59		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10071135	10071135	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:10071135C>T	uc002mmq.1	-	66	5276	c.5190G>A	c.(5188-5190)acG>acA	p.T1730T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1730	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.T1730T(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACTTTTGGTTCGTCTGGCCAA	0.577000														87			36		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646242	48646242	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:48646242G>A	uc002irk.1	+	1	626	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CACNA1G_uc002iri.1_Missense_Mutation_p.R85H|CACNA1G_uc002irj.1_Missense_Mutation_p.R85H|CACNA1G_uc002irl.1_Missense_Mutation_p.R85H|CACNA1G_uc002irm.1_Missense_Mutation_p.R85H|CACNA1G_uc002irn.1_Missense_Mutation_p.R85H|CACNA1G_uc002iro.1_Missense_Mutation_p.R85H|CACNA1G_uc002irp.1_Missense_Mutation_p.R85H|CACNA1G_uc002irq.1_Missense_Mutation_p.R85H|CACNA1G_uc002irr.1_Missense_Mutation_p.R85H|CACNA1G_uc002irs.1_Missense_Mutation_p.R85H|CACNA1G_uc002irt.1_Missense_Mutation_p.R85H|CACNA1G_uc002iru.1_Missense_Mutation_p.R85H|CACNA1G_uc002irv.1_Missense_Mutation_p.R85H|CACNA1G_uc002irw.1_Missense_Mutation_p.R85H|CACNA1G_uc002irx.1_5'UTR|CACNA1G_uc002iry.1_5'UTR|CACNA1G_uc002isg.1_5'UTR|CACNA1G_uc002ish.1_5'UTR|CACNA1G_uc002isi.1_5'UTR|CACNA1G_uc002irz.1_5'UTR|CACNA1G_uc002isa.1_5'UTR|CACNA1G_uc002isd.1_5'UTR|CACNA1G_uc002isb.1_5'UTR|CACNA1G_uc002isc.1_5'UTR|CACNA1G_uc002ise.1_5'UTR|CACNA1G_uc002isf.1_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	85					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.R85C(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTTTGAGCGCATCAGCATG	0.627000														102			4		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36849	36849	+	RNA	SNP	C	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrGL000241.1:36849C>G	uc011mgv.2	-	0		c.27G>C								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CGGAGCAGCACCAGGGCGGGG	0.577000														22			3		0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49360170	49360170	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:49360170C>T	uc001rss.3	-	4	1322	c.878G>A	c.(877-879)gGa>gAa	p.G293E	WNT10B_uc001rst.3_3'UTR	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	293					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.G293V(2)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CTGGAAGGCTCCAGAATTGCG	0.637000														180			97		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123745046	123745046	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:123745046C>T	uc004bkv.3	-	25	3307	c.3277G>A	c.(3277-3279)Gta>Ata	p.V1093I		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1093					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTCTGCTCTACGTATTTATTT	0.294000														30			12		0	0	1	0	0
CHCHD3	54927	broad.mit.edu	37	7	132481269	132481269	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:132481269G>A	uc022alw.1	-	7	740	c.609C>T	c.(607-609)acC>acT	p.T203T	CHCHD3_uc003vre.3_Silent_p.T198T|CHCHD3_uc010lmi.3_Non-coding_Transcript	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 3 (CHCHD3), mRNA.	198	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GGGTCTGGTGGGTGTTCTCAC	0.542000														101			34		0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135263667	135263667	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:135263667G>A	uc003qew.3	-	2	391	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	ALDH8A1_uc011ecx.2_Missense_Mutation_p.P108S|ALDH8A1_uc003qex.3_Missense_Mutation_p.P108S|ALDH8A1_uc010kgh.3_5'UTR	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	108					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACAGACCGGGGAATGTCCATG	0.522000														69			33		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39439574	39439574	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:39439574C>T	uc003gua.3	+	2	1661	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	KLB_uc011byj.2_Missense_Mutation_p.P522S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	522	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGGCCAGTTTCCCTGTGACTT	0.413000														77			39		0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30133239	30133239	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:30133239G>A	uc002dws.3	-	1	359	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'UTR|MAPK3_uc002dwv.4_Missense_Mutation_p.R87W|MAPK3_uc002dwt.3_Missense_Mutation_p.R87W	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	87	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TGGATCTCCCGGAGCGTGCGC	0.602000														53			36		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93955137	93955137	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:93955137C>T	uc003poe.3	-	15	3002	c.2761G>A	c.(2761-2763)Gat>Aat	p.D921N	EPHA7_uc003pof.3_Missense_Mutation_p.D916N|EPHA7_uc011eac.2_Missense_Mutation_p.D917N	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	921						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTAGTGAAATCAGGAGTGTTT	0.378000														108			56		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854838	88854839	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:88854838_88854839GG>AA	uc010kbz.3	-	1	285_286	c.155_156CC>TT	c.(154-156)tcc>tTT	p.S52F	CNR1_uc011dzr.2_Missense_Mutation_p.S52F|CNR1_uc011dzs.2_Missense_Mutation_p.S52F|CNR1_uc003pmq.4_Missense_Mutation_p.S52F|CNR1_uc011dzt.2_Missense_Mutation_p.S52F|CNR1_uc010kca.3_Intron|CNR1_uc021zco.1_Missense_Mutation_p.S52F	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	52					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TTCCCCTAAAGGAAGTTAAAGG	0.470000														58			36		0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965924	43965924	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:43965924G>A	uc002owl.1	-	4	728	c.620C>T	c.(619-621)cCa>cTa	p.P207L	LYPD3_uc002owm.3_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	207	UPAR/Ly6 2.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CGTGAACCCTGGGCCTGTTAC	0.582000														150			95		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029367	32029367	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:32029367G>A	uc003nzl.2	-	20	7501	c.7299C>T	c.(7297-7299)gtC>gtT	p.V2433V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2493	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCTGGGGGACGGTCCAGG	0.687000														90			96		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975096	16975096	+	RNA	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:16975096G>A	uc010och.2	+	6		c.1556G>A			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGATAGCCATGGGCCCTGGTG	0.622000														187			12		0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48962322	48962322	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:48962322C>T	uc001rrt.3	-	2	372	c.346G>A	c.(346-348)Gat>Aat	p.D116N		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	116					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CCTTTAATATCCAGGATCTTC	0.433000														88			28		0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009214	5009214	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:5009214G>A	uc002gat.3	-	4	1895	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	ZNF232_uc002gar.1_Missense_Mutation_p.P405S	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	387					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CATATAAAAGGTTTCTCTCCA	0.433000														98			48		0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160739	132160739	+	Silent	SNP	G	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:132160739G>T	uc003kxx.3	-	4	1810	c.1005C>A	c.(1003-1005)ccC>ccA	p.P335P	SHROOM1_uc003kxy.2_Silent_p.P335P	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	335					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	p.T334P(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAATGGTCTGGGGGTTTCTG	0.517000														149			87		9.24413e-38	9.43904e-38	1	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307447	39307447	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:39307447T>G	uc021wwc.1	-	1	690	c.650A>C	c.(649-651)gAa>gCa	p.E217A	CX3CR1_uc021wwa.1_Missense_Mutation_p.E185A|CX3CR1_uc021wwb.1_Missense_Mutation_p.E185A|CX3CR1_uc003cjl.3_Missense_Mutation_p.E185A|CX3CR1_uc021wwd.1_Missense_Mutation_p.E185A	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	185					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGGCCAGATTTCCTGGAGGAC	0.507000														186			84		0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54277896	54277896	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:54277896C>T	uc003jpk.3	-	1	449	c.380G>A	c.(379-381)gGa>gAa	p.G127E	ESM1_uc010ivt.3_Intron	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	127					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CAGGCATTTTCCCGTCCCCCT	0.498000														101			62		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137726973	137726973	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:137726973C>T	uc004cfe.3	+	64	5675	c.5293C>T	c.(5293-5295)Cgc>Tgc	p.R1765C	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1765	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAGGCCCTCCGCTTCCTGGG	0.657000														57			32		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83360657	83360657	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:83360657G>A	uc003kio.1	-	7	1233	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	EDIL3_uc003kip.1_Missense_Mutation_p.R262C|EDIL3_uc011ctt.1_Missense_Mutation_p.R49C	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	272	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATGTTTCCACGAAACACCTGT	0.338000														83			49		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549437	33549437	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:33549437C>G	uc003jia.1	-	20	4340	c.4177G>C	c.(4177-4179)Gac>Cac	p.D1393H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1308H	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1393	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCCGGCTGTCCACGCACTGA	0.567000										HNSCC(64;0.19)				165			95		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072321	9072321	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:9072321G>A	uc002mkp.3	-	2	15329	c.15125C>T	c.(15124-15126)tCc>tTc	p.S5042F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5044	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						GGACAGAAAGGAAGAGGGGGA	0.478000														75			29		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306029	306029	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:306029G>A	uc001qhz.3	-	11	1759	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Silent_p.I365I|SLC6A12_uc001qib.3_Silent_p.I365I|SLC6A12_uc009zdh.2_Silent_p.I365I	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	365					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGGGGAAGGCGATGAAGGCCA	0.582000														78			33		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21119191	21119191	+	Silent	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:21119191G>A	uc002zsz.4	-	21	2709	c.2448C>T	c.(2446-2448)ccC>ccT	p.P816P		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	816					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)			CCTCGGGAGGGGGGTCCAGCA	0.592000														62			26		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23851666	23851666	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:23851666G>A	uc001wjv.3	-	37	5838	c.5767C>T	c.(5767-5769)Cga>Tga	p.R1923*		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1923					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1922I(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCTTGGCTCGAAGCTTGTTG	0.587000														124			65		0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4439702	4439702	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:4439702C>T	uc002fxx.2	+	10	1802	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	SPNS2_uc002fxy.2_5'Flank	NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA.	530					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CGTCAGCGACCGCGCCAGGGC	0.682000														74			37		0	0	1	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237271	22237271	+	Silent	SNP	C	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:22237271C>T	uc001wbt.1	+	1	355	c.348C>T	c.(346-348)atC>atT	p.I116I	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		TGTTTCATATCACAGCCTCCC	0.463000														276			139		0	0	1	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:700532delT	uc001abo.3	-	6		c.1084delA								Homo sapiens general transcription factor IIi pseudogene (LOC100288069), non-coding RNA.																		aaaaaaaaaaTTCCTTTGGGA	0.453													---	4	---	---	2	---					
B3GALT6	126792	broad.mit.edu	37	1	1168240	1168241	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:1168240_1168241insA	uc001adk.3	+	0	612_613	c.582_583insA	c.(580-585)ccggggfs	p.P194fs	SDF4_uc001adh.4_5'Flank|SDF4_uc001adi.4_5'Flank|SDF4_uc009vjw.3_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	Homo sapiens UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 (B3GALT6), mRNA.	194					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGTCAAGCCGGGGGGGCGCTG	0.767													---	45	---	---	31	---					
OXCT2	64064	broad.mit.edu	37	1	40236415	40236415	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:40236415delG	uc001ceb.1	-	0	606	c.513delC	c.(511-513)cccfs	p.P171fs	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	171					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TGTAGCGGATGGGGGCGCCCC	0.731													---	4	---	---	2	---					
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													---	3	---	---	4	---					
APOA1BP	128240	broad.mit.edu	37	1	156562376	156562376	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:156562376delA	uc001fph.3	+	3	469	c.430delA	c.(430-432)aaafs	p.K144fs	APOA1BP_uc001fpi.3_Frame_Shift_Del_p.K144fs|APOA1BP_uc001fpk.3_Frame_Shift_Del_p.K41fs|APOA1BP_uc010php.1_Frame_Shift_Del_p.K41fs	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	144	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATTACCCCAAAAGGCCTAA	0.567													---	639	---	---	9	---					
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	-	-	rs72561774		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:14219966_14219968delCCT	uc011ave.2	-	1	207	c.103_splice	c.e1+1	p.D35_splice	XPC_uc011avf.2_Splice_Site|XPC_uc011avg.2_Splice_Site_p.D35_splice|LSM3_uc003byn.3_5'Flank	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	35	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				---	233	---	---	9	---					
HSP90AB3P	3327	broad.mit.edu	37	4	88814994	88814994	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:88814994delT	uc010iko.1	+	3	1621	c.1621delT	c.(1621-1623)tttfs	p.F541fs						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		ATCTTCGGGCTTTTCCCTTGA	0.537													---	871	---	---	8	---					
GPR98	84059	broad.mit.edu	37	5	90024654	90024654	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:90024654delA	uc003kju.3	+	48	10426	c.10330delA	c.(10330-10332)aacfs	p.N3444fs	GPR98_uc003kjt.3_Frame_Shift_Del_p.N1150fs|GPR98_uc003kjv.3_Frame_Shift_Del_p.N1044fs	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3444					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGTTTATTAACTTTCAAGA	0.443													---	66	---	---	39	---					
HNRNPH1	3187	broad.mit.edu	37	5	179046306	179046306	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:179046306delT	uc021yjd.1	-	3	531	c.500delA	c.(499-501)aagfs	p.K167fs	HNRNPH1_uc011dgn.2_5'Flank|HNRNPH1_uc003mkf.4_Frame_Shift_Del_p.K167fs|HNRNPH1_uc003mkg.4_Frame_Shift_Del_p.K75fs|HNRNPH1_uc003mke.4_Frame_Shift_Del_p.K167fs|HNRNPH1_uc003mkh.4_Frame_Shift_Del_p.K167fs	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	167	RRM 2.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTTTAGAGCCTTTTCAGCTAT	0.453													---	550	---	---	9	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:31939825_31939826insG	uc003nyv.3	+	0	180_181	c.52_53insG	c.(52-54)cggfs	p.R18fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													---	898	---	---	8	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													---	764	---	---	15	---					
PHF1	5252	broad.mit.edu	37	6	33380050	33380050	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:33380050delC	uc003oeh.3	+	1	246	c.10delC	c.(10-12)cccfs	p.P4fs	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Frame_Shift_Del_p.P4fs|PHF1_uc010jux.3_5'UTR	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	4					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				AATGGCGCAGCCCCCCCGGCT	0.567													---	175	---	---	7	---					
SCUBE3	222663	broad.mit.edu	37	6	35213795	35213796	+	Frame_Shift_Ins	INS	-	GGAAG	GGAAG			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:35213795_35213796insGGAAG	uc003okf.1	+	19	2680_2681	c.2674_2675insGGAAG	c.(2674-2676)aggfs	p.R892fs	SCUBE3_uc003okg.1_Frame_Shift_Ins_p.R891fs|SCUBE3_uc003okh.1_Frame_Shift_Ins_p.R779fs	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	892	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGCCCGTTCCAGGAAGCTCTGG	0.550													---	499	---	---	178	---					
ZNF76	7629	broad.mit.edu	37	6	35258075	35258075	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:35258075delA	uc003oki.1	+	5	670	c.465delA	c.(463-465)ggafs	p.G155fs	ZNF76_uc011dsy.1_Frame_Shift_Del_p.G155fs|ZNF76_uc011dsz.1_Frame_Shift_Del_p.G155fs|ZNF76_uc003okj.1_Frame_Shift_Del_p.G155fs	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	155					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCCGTAATGGAAAAGGGCAGC	0.532													---	840	---	---	7	---					
HSP90AB1	3326	broad.mit.edu	37	6	44221052	44221052	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:44221052delT	uc003oxa.1	+	10	2086	c.2002delT	c.(2002-2004)tttfs	p.F668fs	HSP90AB1_uc011dvr.1_Frame_Shift_Del_p.F658fs|HSP90AB1_uc003oxb.1_Frame_Shift_Del_p.F668fs|HSP90AB1_uc011dvs.1_Frame_Shift_Del_p.F488fs|HSP90AB1_uc003oxc.1_Frame_Shift_Del_p.F306fs	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	668					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCTTCTGGCTTTTCCCTTGA	0.527													---	1716	---	---	11	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	GCC	GCC	rs3837151	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:1586662_1586663insGCC	uc003skv.4	-	8	1484_1485	c.1167_1168insGGC	c.(1165-1170)insGGC	p.389_390insG	TMEM184A_uc003skt.4_In_Frame_Ins_p.368_369insG|TMEM184A_uc021zyr.1_In_Frame_Ins_p.194_195insG	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													---	134	---	---	12	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:100284335_100284337delCCT	uc003uwg.1	-	6	1638_1640	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	210	Poly-Glu.							p.E210delE(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													---	188	---	---	7	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	-	-	rs11277659		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:131241030_131241035delGGCGAC	uc003vqw.4	-	0	342_347	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													---	14	---	---	9	---					
WDR60	55112	broad.mit.edu	37	7	158704353	158704353	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:158704353delA	uc003woe.4	+	11	1731	c.1573delA	c.(1573-1575)aaafs	p.K525fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Frame_Shift_Del_p.K157fs	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	525								p.G524R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAACTTTGGGAAAAAAAATAC	0.328													---	255	---	---	10	---					
LOC642236	642236	broad.mit.edu	37	9	68438558	68438559	+	Splice_Site	INS	-	T	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:68438558_68438559insT	uc022bht.1	-	4		c.541_splice	c.e4+1							Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		AGACACAAACCTTCTTTGTGTG	0.421													---	229	---	---	7	---					
CEL	1056	broad.mit.edu	37	9	135941982	135941982	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:135941982delG	uc010naa.1	+	4	629	c.613delG	c.(613-615)gggfs	p.G205fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	202					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642													---	521	---	---	7	---					
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:63852298delA	uc001jlt.2	+	9	3532	c.3076delA	c.(3076-3078)aaafs	p.K1026fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.K783fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1026					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	p.G1025R(1)		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)					GATTGCAGGGAAAAAGGCCCG	0.607													---	337	---	---	7	---					
DOCK1	1793	broad.mit.edu	37	10	129224241	129224241	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:129224241delA	uc010qun.2	+	46	4944	c.4880delA	c.(4879-4881)gaafs	p.E1627fs	DOCK1_uc001ljt.3_Frame_Shift_Del_p.E1606fs|DOCK1_uc009yaq.3_Frame_Shift_Del_p.E601fs	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1606					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGCTGAAGGAAAAGGTGGAG	0.532													---	402	---	---	7	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:11546506_11546508delTTG	uc010shk.1	-	2	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													---	1046	---	---	14	---					
MBD6	114785	broad.mit.edu	37	12	57921001	57921002	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:57921001_57921002insC	uc001soj.1	+	6	2297_2298	c.2073_2074insC	c.(2071-2076)acacccfs	p.T691fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.T558fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	691	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding	p.Q694fs*23(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTCGGGGACACCCCCCCAGGT	0.559													---	24	---	---	16	---					
PLBD2	196463	broad.mit.edu	37	12	113810537	113810537	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:113810537delG	uc001tve.2	+	2	503	c.468delG	c.(466-468)aagfs	p.K156fs	PLBD2_uc001tvf.2_Frame_Shift_Del_p.K156fs	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	156					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGAGGCTGAAGAGCTTCCTGG	0.567													---	113	---	---	224	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:72190482_72190484delTCC	uc001xms.3	+	15	4751_4753	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_uc001xmt.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmu.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmv.3_In_Frame_Del_p.S1468del|SIPA1L1_uc010ttm.2_In_Frame_Del_p.S922del	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													---	330	---	---	7	---					
NLRP1	22861	broad.mit.edu	37	17	5463204	5463204	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:5463204delT	uc002gci.3	-	3	1367	c.812delA	c.(811-813)aatfs	p.N271fs	NLRP1_uc002gcg.1_Frame_Shift_Del_p.N271fs|NLRP1_uc002gch.4_Frame_Shift_Del_p.N271fs|NLRP1_uc002gck.3_Frame_Shift_Del_p.N271fs|NLRP1_uc002gcj.3_Frame_Shift_Del_p.N271fs|NLRP1_uc002gcl.3_Frame_Shift_Del_p.N271fs|NLRP1_uc010clh.3_Frame_Shift_Del_p.N271fs	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	271					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.K270*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AAAATCCTCATTTTTCCAGGG	0.537													---	621	---	---	7	---					
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:16335490_16335492delTGC	uc002gpy.3	+	11	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_uc002gpz.3_In_Frame_Del_p.L197del	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	627					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596													---	199	---	---	12	---					
ZNF43	7594	broad.mit.edu	37	19	22002025	22002026	+	Splice_Site	INS	-	A	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:22002025_22002026insA	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386													---	237	---	---	7	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	-	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:35940788_35940790delCTG	uc002nzg.2	+	1	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_uc010eea.3_In_Frame_Del_p.L62del	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													---	107	---	---	7	---					
NKX2-2	4821	broad.mit.edu	37	20	21493012	21493013	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:21493012_21493013insC	uc002wsi.3	-	1	727_728	c.370_371insG	c.(370-372)gacfs	p.D124fs		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	124					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	p.D124fs*>151(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTTGCCGGCGTCCCCCCCGCCG	0.703													---	30	---	---	13	---					
